Linked Data
ClinVar Variation Id:
1200278
ClinVar RCV Id:
RCV001565246
dbSNP Id:
rs1564366833
gnomAD v2:
9-134391170-T-TCTAACACA
gnomAD v3:
9-131515783-T-TCTAACACA
gnomAD v4:
9-131515783-T-TCTAACACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515783_131515784insCTAACACA , CM000671.2:g.131515783_131515784insCTAACACA | GRCh38 |
| NC_000009.11:g.134391170_134391171insCTAACACA , CM000671.1:g.134391170_134391171insCTAACACA | GRCh37 |
| NC_000009.10:g.133380991_133380992insCTAACACA | NCBI36 |
| NG_008896.1:g.17882_17883insCTAACACA | |
| NG_008896.2:g.17882_17883insCTAACACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+261_1110+262insCTAACACA | ENSP00000343034.7:n.1110+261_1110+262insCTAACACA | |
| ENST00000404875.7:n.1812+261_1812+262insCTAACACA | ||
| ENST00000423007.6:c.1329+261_1329+262insCTAACACA | ENSP00000404119.2:n.1329+261_1329+262insCTAACACA | |
| ENST00000677295.2:c.*1616+261_*1616+262insCTAACACA | ENSP00000504346.2:n.*1616+261_*1616+262insCTAACACA | |
| ENST00000678264.2:c.*1455+261_*1455+262insCTAACACA | ENSP00000503157.2:n.*1455+261_*1455+262insCTAACACA | |
| ENST00000682070.1:n.1737+261_1737+262insCTAACACA | ||
| ENST00000682539.1:c.97+261_97+262insCTAACACA | ||
| ENST00000682813.1:n.1537+261_1537+262insCTAACACA | ||
| ENST00000683392.1:n.4019+261_4019+262insCTAACACA | ||
| ENST00000683712.1:n.1677+261_1677+262insCTAACACA | ||
| ENST00000683900.1:n.3172+261_3172+262insCTAACACA | ||
| ENST00000684062.1:n.1938+261_1938+262insCTAACACA | ||
| ENST00000684579.1:n.3118+261_3118+262insCTAACACA | ||
| ENST00000341012.12:c.1110+261_1110+262insCTAACACA | ENSP00000343034.7:n.1110+261_1110+262insCTAACACA | |
| ENST00000372220.5:c.141+261_141+262insCTAACACA | ENSP00000361294.5:n.141+261_141+262insCTAACACA | |
| ENST00000372228.9:c.1338+261_1338+262insCTAACACA | ENSP00000361302.3:n.1338+261_1338+262insCTAACACA | |
| ENST00000402686.8:c.1272+261_1272+262insCTAACACA MANE Select | ENSP00000385797.4:n.1272+261_1272+262insCTAACACA | |
| ENST00000676640.1:c.1272+261_1272+262insCTAACACA | ENSP00000503281.1:n.1272+261_1272+262insCTAACACA | |
| ENST00000676803.1:c.447+261_447+262insCTAACACA | ENSP00000503093.1:n.447+261_447+262insCTAACACA | |
| ENST00000676835.1:c.*487+261_*487+262insCTAACACA | ENSP00000502911.1:n.*487+261_*487+262insCTAACACA | |
| ENST00000677029.1:c.816+261_816+262insCTAACACA | ENSP00000502936.1:n.816+261_816+262insCTAACACA | |
| ENST00000677099.1:c.*982+261_*982+262insCTAACACA | ENSP00000504553.1:n.*982+261_*982+262insCTAACACA | |
| ENST00000677216.1:c.921+261_921+262insCTAACACA | ENSP00000503772.1:n.921+261_921+262insCTAACACA | |
| ENST00000677295.1:c.*649+261_*649+262insCTAACACA | ENSP00000504346.1:n.*649+261_*649+262insCTAACACA | |
| ENST00000677444.1:c.1078+261_1078+262insCTAACACA | ||
| ENST00000677586.1:n.753+261_753+262insCTAACACA | ||
| ENST00000677626.1:c.921+261_921+262insCTAACACA | ENSP00000503552.1:n.921+261_921+262insCTAACACA | |
| ENST00000677677.1:n.1232+261_1232+262insCTAACACA | ||
| ENST00000677853.1:c.*280+261_*280+262insCTAACACA | ENSP00000503488.1:n.*280+261_*280+262insCTAACACA | |
| ENST00000677944.1:c.534+261_534+262insCTAACACA | ||
| ENST00000678264.1:c.*649+261_*649+262insCTAACACA | ENSP00000503157.1:n.*649+261_*649+262insCTAACACA | |
| ENST00000678303.1:c.1182+261_1182+262insCTAACACA | ENSP00000503696.1:n.1182+261_1182+262insCTAACACA | |
| ENST00000678366.1:c.*1521+261_*1521+262insCTAACACA | ENSP00000504353.1:n.*1521+261_*1521+262insCTAACACA | |
| ENST00000678546.1:c.*1217+261_*1217+262insCTAACACA | ENSP00000503062.1:n.*1217+261_*1217+262insCTAACACA | |
| ENST00000678548.1:c.*1344+261_*1344+262insCTAACACA | ENSP00000503934.1:n.*1344+261_*1344+262insCTAACACA | |
| ENST00000678626.1:n.969+261_969+262insCTAACACA | ||
| ENST00000678733.1:c.353+261_353+262insCTAACACA | ||
| ENST00000678739.1:c.*1598+261_*1598+262insCTAACACA | ENSP00000503806.1:n.*1598+261_*1598+262insCTAACACA | |
| ENST00000678795.1:n.359+261_359+262insCTAACACA | ||
| ENST00000678833.1:c.*719+261_*719+262insCTAACACA | ENSP00000503893.1:n.*719+261_*719+262insCTAACACA | |
| ENST00000678942.1:c.452+261_452+262insCTAACACA | ENSP00000504690.1:n.452+261_452+262insCTAACACA | |
| ENST00000679023.1:c.1110+261_1110+262insCTAACACA | ENSP00000503718.1:n.1110+261_1110+262insCTAACACA | |
| ENST00000679076.1:c.891+261_891+262insCTAACACA | ||
| ENST00000679111.1:c.1272+261_1272+262insCTAACACA | ENSP00000504257.1:n.1272+261_1272+262insCTAACACA | |
| ENST00000679189.1:c.921+261_921+262insCTAACACA | ENSP00000503356.1:n.921+261_921+262insCTAACACA | |
| ENST00000341012.11:c.1110+261_1110+262insCTAACACA | ENSP00000343034.7:n.1110+261_1110+262insCTAACACA | |
| ENST00000372228.7:c.1338+261_1338+262insCTAACACA | ENSP00000361302.3:n.1338+261_1338+262insCTAACACA | |
| ENST00000402686.7:c.1272+261_1272+262insCTAACACA | ENSP00000385797.3:n.1272+261_1272+262insCTAACACA | |
| ENST00000404875.6:c.921+261_921+262insCTAACACA | ENSP00000384531.2:n.921+261_921+262insCTAACACA | |
| ENST00000423007.5:c.1272+261_1272+262insCTAACACA | ENSP00000404119.1:n.1272+261_1272+262insCTAACACA | |
| ENST00000485278.5:n.1827+261_1827+262insCTAACACA | ||
| NM_001077365.1:c.1272+261_1272+262insCTAACACA | NP_001070833.1:n.1272+261_1272+262insCTAACACA | |
| NM_001077366.1:c.1110+261_1110+262insCTAACACA | NP_001070834.1:n.1110+261_1110+262insCTAACACA | |
| NM_001136113.1:c.1272+261_1272+262insCTAACACA | NP_001129585.1:n.1272+261_1272+262insCTAACACA | |
| NM_001136114.1:c.921+261_921+262insCTAACACA | NP_001129586.1:n.921+261_921+262insCTAACACA | |
| NM_007171.3:c.1338+261_1338+262insCTAACACA | NP_009102.3:n.1338+261_1338+262insCTAACACA | |
| XM_005272156.1:c.1338+261_1338+262insCTAACACA | XP_005272213.1:n.1338+261_1338+262insCTAACACA | |
| XM_005272158.1:c.1176+261_1176+262insCTAACACA | XP_005272215.1:n.1176+261_1176+262insCTAACACA | |
| XM_005272159.1:c.987+261_987+262insCTAACACA | XP_005272216.1:n.987+261_987+262insCTAACACA | |
| XM_005272162.1:c.141+261_141+262insCTAACACA | XP_005272219.1:n.141+261_141+262insCTAACACA | |
| XM_006716932.1:c.987+261_987+262insCTAACACA | XP_006716995.1:n.987+261_987+262insCTAACACA | |
| XM_011518140.1:c.1191+261_1191+262insCTAACACA | XP_011516442.1:n.1191+261_1191+262insCTAACACA | |
| XM_011518141.1:c.1125+261_1125+262insCTAACACA | XP_011516443.1:n.1125+261_1125+262insCTAACACA | |
| XM_011518142.1:c.1029+261_1029+262insCTAACACA | XP_011516444.1:n.1029+261_1029+262insCTAACACA | |
| XM_011518143.1:c.1023+261_1023+262insCTAACACA | XP_011516445.1:n.1023+261_1023+262insCTAACACA | |
| XM_011518144.1:c.1338+261_1338+262insCTAACACA | XP_011516446.1:n.1338+261_1338+262insCTAACACA | |
| XM_011518145.1:c.882+261_882+262insCTAACACA | XP_011516447.1:n.882+261_882+262insCTAACACA | |
| XM_011518146.1:c.1023+261_1023+262insCTAACACA | XP_011516448.1:n.1023+261_1023+262insCTAACACA | |
| XR_929703.1:n.1514+261_1514+262insCTAACACA | ||
| NM_001353193.1:c.1338+261_1338+262insCTAACACA | NP_001340122.1:n.1338+261_1338+262insCTAACACA | |
| NM_001353194.1:c.1110+261_1110+262insCTAACACA | NP_001340123.1:n.1110+261_1110+262insCTAACACA | |
| NM_001353195.1:c.921+261_921+262insCTAACACA | NP_001340124.1:n.921+261_921+262insCTAACACA | |
| NM_001353196.1:c.1182+261_1182+262insCTAACACA | NP_001340125.1:n.1182+261_1182+262insCTAACACA | |
| NM_001353197.1:c.1176+261_1176+262insCTAACACA | NP_001340126.1:n.1176+261_1176+262insCTAACACA | |
| NM_001353198.1:c.1176+261_1176+262insCTAACACA | NP_001340127.1:n.1176+261_1176+262insCTAACACA | |
| NM_001353199.1:c.987+261_987+262insCTAACACA | NP_001340128.1:n.987+261_987+262insCTAACACA | |
| NM_001353200.1:c.816+261_816+262insCTAACACA | NP_001340129.1:n.816+261_816+262insCTAACACA | |
| NR_148391.1:n.1322+261_1322+262insCTAACACA | ||
| NR_148392.1:n.1540+261_1540+262insCTAACACA | ||
| NR_148393.1:n.1322+261_1322+262insCTAACACA | ||
| NR_148394.1:n.1215+261_1215+262insCTAACACA | ||
| NR_148395.1:n.1474+261_1474+262insCTAACACA | ||
| NR_148396.1:n.1108+261_1108+262insCTAACACA | ||
| NR_148397.1:n.1372+261_1372+262insCTAACACA | ||
| NR_148398.1:n.1327+261_1327+262insCTAACACA | ||
| NR_148399.1:n.1714+261_1714+262insCTAACACA | ||
| NR_148400.1:n.1313+261_1313+262insCTAACACA | ||
| XM_005272162.3:c.141+261_141+262insCTAACACA | XP_005272219.1:n.141+261_141+262insCTAACACA | |
| XM_006716932.2:c.987+261_987+262insCTAACACA | XP_006716995.1:n.987+261_987+262insCTAACACA | |
| XM_011518140.2:c.1191+261_1191+262insCTAACACA | XP_011516442.1:n.1191+261_1191+262insCTAACACA | |
| XM_011518141.2:c.1125+261_1125+262insCTAACACA | XP_011516443.1:n.1125+261_1125+262insCTAACACA | |
| XM_011518142.2:c.1029+261_1029+262insCTAACACA | XP_011516444.1:n.1029+261_1029+262insCTAACACA | |
| XM_011518143.2:c.1023+261_1023+262insCTAACACA | XP_011516445.1:n.1023+261_1023+262insCTAACACA | |
| XM_011518145.2:c.882+261_882+262insCTAACACA | XP_011516447.1:n.882+261_882+262insCTAACACA | |
| XM_017014205.2:c.141+261_141+262insCTAACACA | XP_016869694.1:n.141+261_141+262insCTAACACA | |
| XM_024447380.1:c.141+261_141+262insCTAACACA | XP_024303148.1:n.141+261_141+262insCTAACACA | |
| XM_024447381.1:c.447+261_447+262insCTAACACA | XP_024303149.1:n.447+261_447+262insCTAACACA | |
| XM_024447382.1:c.141+261_141+262insCTAACACA | XP_024303150.1:n.141+261_141+262insCTAACACA | |
| XR_001746160.2:n.1442+261_1442+262insCTAACACA | ||
| XR_001746162.2:n.1508+261_1508+262insCTAACACA | ||
| XR_001746164.1:n.1225+261_1225+262insCTAACACA | ||
| XR_001746166.2:n.1659+261_1659+262insCTAACACA | ||
| NM_001077365.2:c.1272+261_1272+262insCTAACACA MANE Select | NP_001070833.1:n.1272+261_1272+262insCTAACACA | |
| NM_001077366.2:c.1110+261_1110+262insCTAACACA | NP_001070834.1:n.1110+261_1110+262insCTAACACA | |
| NM_001136113.2:c.1272+261_1272+262insCTAACACA | NP_001129585.1:n.1272+261_1272+262insCTAACACA | |
| NM_001136114.2:c.921+261_921+262insCTAACACA | NP_001129586.1:n.921+261_921+262insCTAACACA | |
| NM_001353193.2:c.1338+261_1338+262insCTAACACA | NP_001340122.2:n.1338+261_1338+262insCTAACACA | |
| NM_001353194.2:c.1110+261_1110+262insCTAACACA | NP_001340123.1:n.1110+261_1110+262insCTAACACA | |
| NM_001353195.2:c.921+261_921+262insCTAACACA | NP_001340124.1:n.921+261_921+262insCTAACACA | |
| NM_001353196.2:c.1182+261_1182+262insCTAACACA | NP_001340125.1:n.1182+261_1182+262insCTAACACA | |
| NM_001353197.2:c.1176+261_1176+262insCTAACACA | NP_001340126.2:n.1176+261_1176+262insCTAACACA | |
| NM_001353198.2:c.1176+261_1176+262insCTAACACA | NP_001340127.2:n.1176+261_1176+262insCTAACACA | |
| NM_001353199.2:c.987+261_987+262insCTAACACA | NP_001340128.2:n.987+261_987+262insCTAACACA | |
| NM_001353200.2:c.816+261_816+262insCTAACACA | NP_001340129.1:n.816+261_816+262insCTAACACA | |
| NM_001374689.1:c.1260+261_1260+262insCTAACACA | NP_001361618.1:n.1260+261_1260+262insCTAACACA | |
| NM_001374690.1:c.1272+261_1272+262insCTAACACA | NP_001361619.1:n.1272+261_1272+262insCTAACACA | |
| NM_001374691.1:c.921+261_921+262insCTAACACA | NP_001361620.1:n.921+261_921+262insCTAACACA | |
| NM_001374692.1:c.921+261_921+262insCTAACACA | NP_001361621.1:n.921+261_921+262insCTAACACA | |
| NM_001374693.1:c.921+261_921+262insCTAACACA | NP_001361622.1:n.921+261_921+262insCTAACACA | |
| NM_001374695.1:c.882+261_882+262insCTAACACA | NP_001361624.1:n.882+261_882+262insCTAACACA | |
| NM_007171.4:c.1338+261_1338+262insCTAACACA | NP_009102.4:n.1338+261_1338+262insCTAACACA | |
| NR_148391.2:n.1306+261_1306+262insCTAACACA | ||
| NR_148392.2:n.1524+261_1524+262insCTAACACA | ||
| NR_148393.2:n.1306+261_1306+262insCTAACACA | ||
| NR_148394.2:n.1199+261_1199+262insCTAACACA | ||
| NR_148395.2:n.1458+261_1458+262insCTAACACA | ||
| NR_148396.2:n.1092+261_1092+262insCTAACACA | ||
| NR_148397.2:n.1356+261_1356+262insCTAACACA | ||
| NR_148398.2:n.1311+261_1311+262insCTAACACA | ||
| NR_148399.2:n.1698+261_1698+262insCTAACACA | ||
| NR_148400.2:n.1297+261_1297+262insCTAACACA |