Linked Data
gnomAD v3:
9-131515771-T-TACCTCACACGGAGCACTTCCTCACAG
gnomAD v4:
9-131515771-T-TACCTCACACGGAGCACTTCCTCACAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515771_131515772insACCTCACACGGAGCACTTCCTCACAG , CM000671.2:g.131515771_131515772insACCTCACACGGAGCACTTCCTCACAG | GRCh38 |
| NC_000009.11:g.134391158_134391159insACCTCACACGGAGCACTTCCTCACAG , CM000671.1:g.134391158_134391159insACCTCACACGGAGCACTTCCTCACAG | GRCh37 |
| NC_000009.10:g.133380979_133380980insACCTCACACGGAGCACTTCCTCACAG | NCBI36 |
| NG_008896.1:g.17870_17871insACCTCACACGGAGCACTTCCTCACAG | |
| NG_008896.2:g.17870_17871insACCTCACACGGAGCACTTCCTCACAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+249_1110+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000343034.7:n.1110+249_1110+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000404875.7:n.1812+249_1812+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000423007.6:c.1329+249_1329+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000404119.2:n.1329+249_1329+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000677295.2:c.*1616+249_*1616+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000504346.2:n.*1616+249_*1616+250insACCTCACACGGAGCACTTC... | |
| ENST00000678264.2:c.*1455+249_*1455+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000503157.2:n.*1455+249_*1455+250insACCTCACACGGAGCACTTC... | |
| ENST00000682070.1:n.1737+249_1737+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000682539.1:c.97+249_97+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000682813.1:n.1537+249_1537+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000683392.1:n.4019+249_4019+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000683712.1:n.1677+249_1677+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000683900.1:n.3172+249_3172+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000684062.1:n.1938+249_1938+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000684579.1:n.3118+249_3118+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000341012.12:c.1110+249_1110+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000343034.7:n.1110+249_1110+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000372220.5:c.141+249_141+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000361294.5:n.141+249_141+250insACCTCACACGGAGCACTTCCTCA... | |
| ENST00000372228.9:c.1338+249_1338+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000361302.3:n.1338+249_1338+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000402686.8:c.1272+249_1272+250insACCTCACACGGAGCACTTCCTCACAG MANE Select | ENSP00000385797.4:n.1272+249_1272+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000676640.1:c.1272+249_1272+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000503281.1:n.1272+249_1272+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000676803.1:c.447+249_447+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000503093.1:n.447+249_447+250insACCTCACACGGAGCACTTCCTCA... | |
| ENST00000676835.1:c.*487+249_*487+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000502911.1:n.*487+249_*487+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000677029.1:c.816+249_816+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000502936.1:n.816+249_816+250insACCTCACACGGAGCACTTCCTCA... | |
| ENST00000677099.1:c.*982+249_*982+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000504553.1:n.*982+249_*982+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000677216.1:c.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000503772.1:n.921+249_921+250insACCTCACACGGAGCACTTCCTCA... | |
| ENST00000677295.1:c.*649+249_*649+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000504346.1:n.*649+249_*649+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000677444.1:c.1078+249_1078+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000677586.1:n.753+249_753+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000677626.1:c.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000503552.1:n.921+249_921+250insACCTCACACGGAGCACTTCCTCA... | |
| ENST00000677677.1:n.1232+249_1232+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000677853.1:c.*280+249_*280+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000503488.1:n.*280+249_*280+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000677944.1:c.534+249_534+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000678264.1:c.*649+249_*649+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000503157.1:n.*649+249_*649+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000678303.1:c.1182+249_1182+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000503696.1:n.1182+249_1182+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000678366.1:c.*1521+249_*1521+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000504353.1:n.*1521+249_*1521+250insACCTCACACGGAGCACTTC... | |
| ENST00000678546.1:c.*1217+249_*1217+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000503062.1:n.*1217+249_*1217+250insACCTCACACGGAGCACTTC... | |
| ENST00000678548.1:c.*1344+249_*1344+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000503934.1:n.*1344+249_*1344+250insACCTCACACGGAGCACTTC... | |
| ENST00000678626.1:n.969+249_969+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000678733.1:c.353+249_353+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000678739.1:c.*1598+249_*1598+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000503806.1:n.*1598+249_*1598+250insACCTCACACGGAGCACTTC... | |
| ENST00000678795.1:n.359+249_359+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000678833.1:c.*719+249_*719+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000503893.1:n.*719+249_*719+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000678942.1:c.452+249_452+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000504690.1:n.452+249_452+250insACCTCACACGGAGCACTTCCTCA... | |
| ENST00000679023.1:c.1110+249_1110+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000503718.1:n.1110+249_1110+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000679076.1:c.891+249_891+250insACCTCACACGGAGCACTTCCTCACAG | ||
| ENST00000679111.1:c.1272+249_1272+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000504257.1:n.1272+249_1272+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000679189.1:c.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000503356.1:n.921+249_921+250insACCTCACACGGAGCACTTCCTCA... | |
| ENST00000341012.11:c.1110+249_1110+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000343034.7:n.1110+249_1110+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000372228.7:c.1338+249_1338+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000361302.3:n.1338+249_1338+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000402686.7:c.1272+249_1272+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000385797.3:n.1272+249_1272+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000404875.6:c.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000384531.2:n.921+249_921+250insACCTCACACGGAGCACTTCCTCA... | |
| ENST00000423007.5:c.1272+249_1272+250insACCTCACACGGAGCACTTCCTCACAG | ENSP00000404119.1:n.1272+249_1272+250insACCTCACACGGAGCACTTCCT... | |
| ENST00000485278.5:n.1827+249_1827+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NM_001077365.1:c.1272+249_1272+250insACCTCACACGGAGCACTTCCTCACAG | NP_001070833.1:n.1272+249_1272+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001077366.1:c.1110+249_1110+250insACCTCACACGGAGCACTTCCTCACAG | NP_001070834.1:n.1110+249_1110+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001136113.1:c.1272+249_1272+250insACCTCACACGGAGCACTTCCTCACAG | NP_001129585.1:n.1272+249_1272+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001136114.1:c.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG | NP_001129586.1:n.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG... | |
| NM_007171.3:c.1338+249_1338+250insACCTCACACGGAGCACTTCCTCACAG | NP_009102.3:n.1338+249_1338+250insACCTCACACGGAGCACTTCCTCACAG | |
| XM_005272156.1:c.1338+249_1338+250insACCTCACACGGAGCACTTCCTCACAG | XP_005272213.1:n.1338+249_1338+250insACCTCACACGGAGCACTTCCTCAC... | |
| XM_005272158.1:c.1176+249_1176+250insACCTCACACGGAGCACTTCCTCACAG | XP_005272215.1:n.1176+249_1176+250insACCTCACACGGAGCACTTCCTCAC... | |
| XM_005272159.1:c.987+249_987+250insACCTCACACGGAGCACTTCCTCACAG | XP_005272216.1:n.987+249_987+250insACCTCACACGGAGCACTTCCTCACAG... | |
| XM_005272162.1:c.141+249_141+250insACCTCACACGGAGCACTTCCTCACAG | XP_005272219.1:n.141+249_141+250insACCTCACACGGAGCACTTCCTCACAG... | |
| XM_006716932.1:c.987+249_987+250insACCTCACACGGAGCACTTCCTCACAG | XP_006716995.1:n.987+249_987+250insACCTCACACGGAGCACTTCCTCACAG... | |
| XM_011518140.1:c.1191+249_1191+250insACCTCACACGGAGCACTTCCTCACAG | XP_011516442.1:n.1191+249_1191+250insACCTCACACGGAGCACTTCCTCAC... | |
| XM_011518141.1:c.1125+249_1125+250insACCTCACACGGAGCACTTCCTCACAG | XP_011516443.1:n.1125+249_1125+250insACCTCACACGGAGCACTTCCTCAC... | |
| XM_011518142.1:c.1029+249_1029+250insACCTCACACGGAGCACTTCCTCACAG | XP_011516444.1:n.1029+249_1029+250insACCTCACACGGAGCACTTCCTCAC... | |
| XM_011518143.1:c.1023+249_1023+250insACCTCACACGGAGCACTTCCTCACAG | XP_011516445.1:n.1023+249_1023+250insACCTCACACGGAGCACTTCCTCAC... | |
| XM_011518144.1:c.1338+249_1338+250insACCTCACACGGAGCACTTCCTCACAG | XP_011516446.1:n.1338+249_1338+250insACCTCACACGGAGCACTTCCTCAC... | |
| XM_011518145.1:c.882+249_882+250insACCTCACACGGAGCACTTCCTCACAG | XP_011516447.1:n.882+249_882+250insACCTCACACGGAGCACTTCCTCACAG... | |
| XM_011518146.1:c.1023+249_1023+250insACCTCACACGGAGCACTTCCTCACAG | XP_011516448.1:n.1023+249_1023+250insACCTCACACGGAGCACTTCCTCAC... | |
| XR_929703.1:n.1514+249_1514+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NM_001353193.1:c.1338+249_1338+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340122.1:n.1338+249_1338+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001353194.1:c.1110+249_1110+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340123.1:n.1110+249_1110+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001353195.1:c.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340124.1:n.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG... | |
| NM_001353196.1:c.1182+249_1182+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340125.1:n.1182+249_1182+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001353197.1:c.1176+249_1176+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340126.1:n.1176+249_1176+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001353198.1:c.1176+249_1176+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340127.1:n.1176+249_1176+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001353199.1:c.987+249_987+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340128.1:n.987+249_987+250insACCTCACACGGAGCACTTCCTCACAG... | |
| NM_001353200.1:c.816+249_816+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340129.1:n.816+249_816+250insACCTCACACGGAGCACTTCCTCACAG... | |
| NR_148391.1:n.1322+249_1322+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148392.1:n.1540+249_1540+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148393.1:n.1322+249_1322+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148394.1:n.1215+249_1215+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148395.1:n.1474+249_1474+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148396.1:n.1108+249_1108+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148397.1:n.1372+249_1372+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148398.1:n.1327+249_1327+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148399.1:n.1714+249_1714+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148400.1:n.1313+249_1313+250insACCTCACACGGAGCACTTCCTCACAG | ||
| XM_005272162.3:c.141+249_141+250insACCTCACACGGAGCACTTCCTCACAG | XP_005272219.1:n.141+249_141+250insACCTCACACGGAGCACTTCCTCACAG... | |
| XM_006716932.2:c.987+249_987+250insACCTCACACGGAGCACTTCCTCACAG | XP_006716995.1:n.987+249_987+250insACCTCACACGGAGCACTTCCTCACAG... | |
| XM_011518140.2:c.1191+249_1191+250insACCTCACACGGAGCACTTCCTCACAG | XP_011516442.1:n.1191+249_1191+250insACCTCACACGGAGCACTTCCTCAC... | |
| XM_011518141.2:c.1125+249_1125+250insACCTCACACGGAGCACTTCCTCACAG | XP_011516443.1:n.1125+249_1125+250insACCTCACACGGAGCACTTCCTCAC... | |
| XM_011518142.2:c.1029+249_1029+250insACCTCACACGGAGCACTTCCTCACAG | XP_011516444.1:n.1029+249_1029+250insACCTCACACGGAGCACTTCCTCAC... | |
| XM_011518143.2:c.1023+249_1023+250insACCTCACACGGAGCACTTCCTCACAG | XP_011516445.1:n.1023+249_1023+250insACCTCACACGGAGCACTTCCTCAC... | |
| XM_011518145.2:c.882+249_882+250insACCTCACACGGAGCACTTCCTCACAG | XP_011516447.1:n.882+249_882+250insACCTCACACGGAGCACTTCCTCACAG... | |
| XM_017014205.2:c.141+249_141+250insACCTCACACGGAGCACTTCCTCACAG | XP_016869694.1:n.141+249_141+250insACCTCACACGGAGCACTTCCTCACAG... | |
| XM_024447380.1:c.141+249_141+250insACCTCACACGGAGCACTTCCTCACAG | XP_024303148.1:n.141+249_141+250insACCTCACACGGAGCACTTCCTCACAG... | |
| XM_024447381.1:c.447+249_447+250insACCTCACACGGAGCACTTCCTCACAG | XP_024303149.1:n.447+249_447+250insACCTCACACGGAGCACTTCCTCACAG... | |
| XM_024447382.1:c.141+249_141+250insACCTCACACGGAGCACTTCCTCACAG | XP_024303150.1:n.141+249_141+250insACCTCACACGGAGCACTTCCTCACAG... | |
| XR_001746160.2:n.1442+249_1442+250insACCTCACACGGAGCACTTCCTCACAG | ||
| XR_001746162.2:n.1508+249_1508+250insACCTCACACGGAGCACTTCCTCACAG | ||
| XR_001746164.1:n.1225+249_1225+250insACCTCACACGGAGCACTTCCTCACAG | ||
| XR_001746166.2:n.1659+249_1659+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NM_001077365.2:c.1272+249_1272+250insACCTCACACGGAGCACTTCCTCACAG MANE Select | NP_001070833.1:n.1272+249_1272+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001077366.2:c.1110+249_1110+250insACCTCACACGGAGCACTTCCTCACAG | NP_001070834.1:n.1110+249_1110+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001136113.2:c.1272+249_1272+250insACCTCACACGGAGCACTTCCTCACAG | NP_001129585.1:n.1272+249_1272+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001136114.2:c.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG | NP_001129586.1:n.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG... | |
| NM_001353193.2:c.1338+249_1338+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340122.2:n.1338+249_1338+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001353194.2:c.1110+249_1110+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340123.1:n.1110+249_1110+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001353195.2:c.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340124.1:n.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG... | |
| NM_001353196.2:c.1182+249_1182+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340125.1:n.1182+249_1182+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001353197.2:c.1176+249_1176+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340126.2:n.1176+249_1176+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001353198.2:c.1176+249_1176+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340127.2:n.1176+249_1176+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001353199.2:c.987+249_987+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340128.2:n.987+249_987+250insACCTCACACGGAGCACTTCCTCACAG... | |
| NM_001353200.2:c.816+249_816+250insACCTCACACGGAGCACTTCCTCACAG | NP_001340129.1:n.816+249_816+250insACCTCACACGGAGCACTTCCTCACAG... | |
| NM_001374689.1:c.1260+249_1260+250insACCTCACACGGAGCACTTCCTCACAG | NP_001361618.1:n.1260+249_1260+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001374690.1:c.1272+249_1272+250insACCTCACACGGAGCACTTCCTCACAG | NP_001361619.1:n.1272+249_1272+250insACCTCACACGGAGCACTTCCTCAC... | |
| NM_001374691.1:c.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG | NP_001361620.1:n.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG... | |
| NM_001374692.1:c.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG | NP_001361621.1:n.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG... | |
| NM_001374693.1:c.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG | NP_001361622.1:n.921+249_921+250insACCTCACACGGAGCACTTCCTCACAG... | |
| NM_001374695.1:c.882+249_882+250insACCTCACACGGAGCACTTCCTCACAG | NP_001361624.1:n.882+249_882+250insACCTCACACGGAGCACTTCCTCACAG... | |
| NM_007171.4:c.1338+249_1338+250insACCTCACACGGAGCACTTCCTCACAG | NP_009102.4:n.1338+249_1338+250insACCTCACACGGAGCACTTCCTCACAG | |
| NR_148391.2:n.1306+249_1306+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148392.2:n.1524+249_1524+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148393.2:n.1306+249_1306+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148394.2:n.1199+249_1199+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148395.2:n.1458+249_1458+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148396.2:n.1092+249_1092+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148397.2:n.1356+249_1356+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148398.2:n.1311+249_1311+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148399.2:n.1698+249_1698+250insACCTCACACGGAGCACTTCCTCACAG | ||
| NR_148400.2:n.1297+249_1297+250insACCTCACACGGAGCACTTCCTCACAG |