Linked Data
dbSNP Id:
rs1215552988
gnomAD v2:
9-134391214-AGGACACTTCCTCACACG-A
gnomAD v3:
9-131515827-AGGACACTTCCTCACACG-A
gnomAD v4:
9-131515827-AGGACACTTCCTCACACG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515829_131515845del , CM000671.2:g.131515829_131515845del | GRCh38 |
| NC_000009.11:g.134391216_134391232del , CM000671.1:g.134391216_134391232del | GRCh37 |
| NC_000009.10:g.133381037_133381053del | NCBI36 |
| NG_008896.1:g.17928_17944del | |
| NG_008896.2:g.17928_17944del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1110+307_1110+323del | ENSP00000343034.7:n.1110+307_1110+323del | |
| ENST00000404875.7:n.1812+307_1812+323del | ||
| ENST00000423007.6:c.1329+307_1329+323del | ENSP00000404119.2:n.1329+307_1329+323del | |
| ENST00000677295.2:c.*1616+307_*1616+323del | ENSP00000504346.2:n.*1616+307_*1616+323del | |
| ENST00000678264.2:c.*1455+307_*1455+323del | ENSP00000503157.2:n.*1455+307_*1455+323del | |
| ENST00000682070.1:n.1737+307_1737+323del | ||
| ENST00000682539.1:c.97+307_97+323del | ||
| ENST00000682813.1:n.1537+307_1537+323del | ||
| ENST00000683392.1:n.4019+307_4019+323del | ||
| ENST00000683712.1:n.1677+307_1677+323del | ||
| ENST00000683900.1:n.3172+307_3172+323del | ||
| ENST00000684062.1:n.1938+307_1938+323del | ||
| ENST00000684579.1:n.3118+307_3118+323del | ||
| ENST00000341012.12:c.1110+307_1110+323del | ENSP00000343034.7:n.1110+307_1110+323del | |
| ENST00000372220.5:c.141+307_141+323del | ENSP00000361294.5:n.141+307_141+323del | |
| ENST00000372228.9:c.1338+307_1338+323del | ENSP00000361302.3:n.1338+307_1338+323del | |
| ENST00000402686.8:c.1272+307_1272+323del MANE Select | ENSP00000385797.4:n.1272+307_1272+323del | |
| ENST00000676640.1:c.1272+307_1272+323del | ENSP00000503281.1:n.1272+307_1272+323del | |
| ENST00000676803.1:c.447+307_447+323del | ENSP00000503093.1:n.447+307_447+323del | |
| ENST00000676835.1:c.*487+307_*487+323del | ENSP00000502911.1:n.*487+307_*487+323del | |
| ENST00000677029.1:c.816+307_816+323del | ENSP00000502936.1:n.816+307_816+323del | |
| ENST00000677099.1:c.*982+307_*982+323del | ENSP00000504553.1:n.*982+307_*982+323del | |
| ENST00000677216.1:c.921+307_921+323del | ENSP00000503772.1:n.921+307_921+323del | |
| ENST00000677295.1:c.*649+307_*649+323del | ENSP00000504346.1:n.*649+307_*649+323del | |
| ENST00000677444.1:c.1078+307_1078+323del | ||
| ENST00000677586.1:n.753+307_753+323del | ||
| ENST00000677626.1:c.921+307_921+323del | ENSP00000503552.1:n.921+307_921+323del | |
| ENST00000677677.1:n.1232+307_1232+323del | ||
| ENST00000677853.1:c.*280+307_*280+323del | ENSP00000503488.1:n.*280+307_*280+323del | |
| ENST00000677944.1:c.534+307_534+323del | ||
| ENST00000678264.1:c.*649+307_*649+323del | ENSP00000503157.1:n.*649+307_*649+323del | |
| ENST00000678303.1:c.1182+307_1182+323del | ENSP00000503696.1:n.1182+307_1182+323del | |
| ENST00000678366.1:c.*1521+307_*1521+323del | ENSP00000504353.1:n.*1521+307_*1521+323del | |
| ENST00000678546.1:c.*1217+307_*1217+323del | ENSP00000503062.1:n.*1217+307_*1217+323del | |
| ENST00000678548.1:c.*1344+307_*1344+323del | ENSP00000503934.1:n.*1344+307_*1344+323del | |
| ENST00000678626.1:n.969+307_969+323del | ||
| ENST00000678733.1:c.353+307_353+323del | ||
| ENST00000678739.1:c.*1598+307_*1598+323del | ENSP00000503806.1:n.*1598+307_*1598+323del | |
| ENST00000678795.1:n.359+307_359+323del | ||
| ENST00000678833.1:c.*719+307_*719+323del | ENSP00000503893.1:n.*719+307_*719+323del | |
| ENST00000678942.1:c.452+307_452+323del | ENSP00000504690.1:n.452+307_452+323del | |
| ENST00000679023.1:c.1110+307_1110+323del | ENSP00000503718.1:n.1110+307_1110+323del | |
| ENST00000679076.1:c.891+307_891+323del | ||
| ENST00000679111.1:c.1272+307_1272+323del | ENSP00000504257.1:n.1272+307_1272+323del | |
| ENST00000679189.1:c.921+307_921+323del | ENSP00000503356.1:n.921+307_921+323del | |
| ENST00000341012.11:c.1110+307_1110+323del | ENSP00000343034.7:n.1110+307_1110+323del | |
| ENST00000372228.7:c.1338+307_1338+323del | ENSP00000361302.3:n.1338+307_1338+323del | |
| ENST00000402686.7:c.1272+307_1272+323del | ENSP00000385797.3:n.1272+307_1272+323del | |
| ENST00000404875.6:c.921+307_921+323del | ENSP00000384531.2:n.921+307_921+323del | |
| ENST00000423007.5:c.1272+307_1272+323del | ENSP00000404119.1:n.1272+307_1272+323del | |
| ENST00000485278.5:n.1827+307_1827+323del | ||
| NM_001077365.1:c.1272+307_1272+323del | NP_001070833.1:n.1272+307_1272+323del | |
| NM_001077366.1:c.1110+307_1110+323del | NP_001070834.1:n.1110+307_1110+323del | |
| NM_001136113.1:c.1272+307_1272+323del | NP_001129585.1:n.1272+307_1272+323del | |
| NM_001136114.1:c.921+307_921+323del | NP_001129586.1:n.921+307_921+323del | |
| NM_007171.3:c.1338+307_1338+323del | NP_009102.3:n.1338+307_1338+323del | |
| XM_005272156.1:c.1338+307_1338+323del | XP_005272213.1:n.1338+307_1338+323del | |
| XM_005272158.1:c.1176+307_1176+323del | XP_005272215.1:n.1176+307_1176+323del | |
| XM_005272159.1:c.987+307_987+323del | XP_005272216.1:n.987+307_987+323del | |
| XM_005272162.1:c.141+307_141+323del | XP_005272219.1:n.141+307_141+323del | |
| XM_006716932.1:c.987+307_987+323del | XP_006716995.1:n.987+307_987+323del | |
| XM_011518140.1:c.1191+307_1191+323del | XP_011516442.1:n.1191+307_1191+323del | |
| XM_011518141.1:c.1125+307_1125+323del | XP_011516443.1:n.1125+307_1125+323del | |
| XM_011518142.1:c.1029+307_1029+323del | XP_011516444.1:n.1029+307_1029+323del | |
| XM_011518143.1:c.1023+307_1023+323del | XP_011516445.1:n.1023+307_1023+323del | |
| XM_011518144.1:c.1338+307_1338+323del | XP_011516446.1:n.1338+307_1338+323del | |
| XM_011518145.1:c.882+307_882+323del | XP_011516447.1:n.882+307_882+323del | |
| XM_011518146.1:c.1023+307_1023+323del | XP_011516448.1:n.1023+307_1023+323del | |
| XR_929703.1:n.1514+307_1514+323del | ||
| NM_001353193.1:c.1338+307_1338+323del | NP_001340122.1:n.1338+307_1338+323del | |
| NM_001353194.1:c.1110+307_1110+323del | NP_001340123.1:n.1110+307_1110+323del | |
| NM_001353195.1:c.921+307_921+323del | NP_001340124.1:n.921+307_921+323del | |
| NM_001353196.1:c.1182+307_1182+323del | NP_001340125.1:n.1182+307_1182+323del | |
| NM_001353197.1:c.1176+307_1176+323del | NP_001340126.1:n.1176+307_1176+323del | |
| NM_001353198.1:c.1176+307_1176+323del | NP_001340127.1:n.1176+307_1176+323del | |
| NM_001353199.1:c.987+307_987+323del | NP_001340128.1:n.987+307_987+323del | |
| NM_001353200.1:c.816+307_816+323del | NP_001340129.1:n.816+307_816+323del | |
| NR_148391.1:n.1322+307_1322+323del | ||
| NR_148392.1:n.1540+307_1540+323del | ||
| NR_148393.1:n.1322+307_1322+323del | ||
| NR_148394.1:n.1215+307_1215+323del | ||
| NR_148395.1:n.1474+307_1474+323del | ||
| NR_148396.1:n.1108+307_1108+323del | ||
| NR_148397.1:n.1372+307_1372+323del | ||
| NR_148398.1:n.1327+307_1327+323del | ||
| NR_148399.1:n.1714+307_1714+323del | ||
| NR_148400.1:n.1313+307_1313+323del | ||
| XM_005272162.3:c.141+307_141+323del | XP_005272219.1:n.141+307_141+323del | |
| XM_006716932.2:c.987+307_987+323del | XP_006716995.1:n.987+307_987+323del | |
| XM_011518140.2:c.1191+307_1191+323del | XP_011516442.1:n.1191+307_1191+323del | |
| XM_011518141.2:c.1125+307_1125+323del | XP_011516443.1:n.1125+307_1125+323del | |
| XM_011518142.2:c.1029+307_1029+323del | XP_011516444.1:n.1029+307_1029+323del | |
| XM_011518143.2:c.1023+307_1023+323del | XP_011516445.1:n.1023+307_1023+323del | |
| XM_011518145.2:c.882+307_882+323del | XP_011516447.1:n.882+307_882+323del | |
| XM_017014205.2:c.141+307_141+323del | XP_016869694.1:n.141+307_141+323del | |
| XM_024447380.1:c.141+307_141+323del | XP_024303148.1:n.141+307_141+323del | |
| XM_024447381.1:c.447+307_447+323del | XP_024303149.1:n.447+307_447+323del | |
| XM_024447382.1:c.141+307_141+323del | XP_024303150.1:n.141+307_141+323del | |
| XR_001746160.2:n.1442+307_1442+323del | ||
| XR_001746162.2:n.1508+307_1508+323del | ||
| XR_001746164.1:n.1225+307_1225+323del | ||
| XR_001746166.2:n.1659+307_1659+323del | ||
| NM_001077365.2:c.1272+307_1272+323del MANE Select | NP_001070833.1:n.1272+307_1272+323del | |
| NM_001077366.2:c.1110+307_1110+323del | NP_001070834.1:n.1110+307_1110+323del | |
| NM_001136113.2:c.1272+307_1272+323del | NP_001129585.1:n.1272+307_1272+323del | |
| NM_001136114.2:c.921+307_921+323del | NP_001129586.1:n.921+307_921+323del | |
| NM_001353193.2:c.1338+307_1338+323del | NP_001340122.2:n.1338+307_1338+323del | |
| NM_001353194.2:c.1110+307_1110+323del | NP_001340123.1:n.1110+307_1110+323del | |
| NM_001353195.2:c.921+307_921+323del | NP_001340124.1:n.921+307_921+323del | |
| NM_001353196.2:c.1182+307_1182+323del | NP_001340125.1:n.1182+307_1182+323del | |
| NM_001353197.2:c.1176+307_1176+323del | NP_001340126.2:n.1176+307_1176+323del | |
| NM_001353198.2:c.1176+307_1176+323del | NP_001340127.2:n.1176+307_1176+323del | |
| NM_001353199.2:c.987+307_987+323del | NP_001340128.2:n.987+307_987+323del | |
| NM_001353200.2:c.816+307_816+323del | NP_001340129.1:n.816+307_816+323del | |
| NM_001374689.1:c.1260+307_1260+323del | NP_001361618.1:n.1260+307_1260+323del | |
| NM_001374690.1:c.1272+307_1272+323del | NP_001361619.1:n.1272+307_1272+323del | |
| NM_001374691.1:c.921+307_921+323del | NP_001361620.1:n.921+307_921+323del | |
| NM_001374692.1:c.921+307_921+323del | NP_001361621.1:n.921+307_921+323del | |
| NM_001374693.1:c.921+307_921+323del | NP_001361622.1:n.921+307_921+323del | |
| NM_001374695.1:c.882+307_882+323del | NP_001361624.1:n.882+307_882+323del | |
| NM_007171.4:c.1338+307_1338+323del | NP_009102.4:n.1338+307_1338+323del | |
| NR_148391.2:n.1306+307_1306+323del | ||
| NR_148392.2:n.1524+307_1524+323del | ||
| NR_148393.2:n.1306+307_1306+323del | ||
| NR_148394.2:n.1199+307_1199+323del | ||
| NR_148395.2:n.1458+307_1458+323del | ||
| NR_148396.2:n.1092+307_1092+323del | ||
| NR_148397.2:n.1356+307_1356+323del | ||
| NR_148398.2:n.1311+307_1311+323del | ||
| NR_148399.2:n.1698+307_1698+323del | ||
| NR_148400.2:n.1297+307_1297+323del |