Linked Data
ClinVar Variation Id:
1032199
dbSNP Id:
rs760590728
ExAC:
2:241656801 ACCT / A
gnomAD v2:
2-241656801-ACCT-A
gnomAD v3:
2-240717384-ACCT-A
gnomAD v4:
2-240717384-ACCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240717388_240717390del , CM000664.2:g.240717388_240717390del | GRCh38 |
| NC_000002.11:g.241656805_241656807del , CM000664.1:g.241656805_241656807del | GRCh37 |
| NC_000002.10:g.241305478_241305480del | NCBI36 |
| NG_029724.1:g.107821_107823del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320389.12:c.5074_5076del | ENSP00000322791.8:p.Arg1692del | |
| ENST00000404283.9:c.5377_5379del | ENSP00000384231.5:p.Arg1793del | |
| ENST00000431776.6:c.2173_2175del | ENSP00000414613.2:p.Arg725del | |
| ENST00000492812.6:n.3936_3938del | ||
| ENST00000498729.9:c.5353_5355del MANE Select | ENSP00000438388.1:p.Arg1785del | |
| ENST00000647731.1:c.5077_5079del | ENSP00000498099.1:p.Arg1693del | |
| ENST00000647885.1:c.5164_5166del | ENSP00000497739.1:p.Arg1722del | |
| ENST00000648047.1:c.4312_4314del | ENSP00000497935.1:p.Arg1438del | |
| ENST00000648129.1:c.5326_5328del | ENSP00000497293.1:p.Arg1776del | |
| ENST00000648364.1:c.5077_5079del | ENSP00000498196.1:p.Arg1693del | |
| ENST00000648680.1:c.5104_5106del | ENSP00000497586.1:p.Arg1702del | |
| ENST00000649096.1:c.5050_5052del | ENSP00000497030.1:p.Arg1684del | |
| ENST00000649190.1:n.4347_4349del | ||
| ENST00000649306.1:c.5152_5154del | ENSP00000497678.1:p.Arg1718del | |
| ENST00000650053.1:c.5050_5052del | ENSP00000497824.1:p.Arg1684del | |
| ENST00000650130.1:c.5326_5328del | ENSP00000498082.1:p.Arg1776del | |
| ENST00000650430.1:n.4425_4427del | ||
| ENST00000320389.11:c.5050_5052del | ENSP00000322791.7:p.Arg1684del | |
| ENST00000460788.5:n.1910_1912del | ||
| ENST00000492812.5:n.1825_1827del | ||
| ENST00000498729.6:c.5353_5355del | ENSP00000438388.1:p.Arg1785del | |
| NM_001244008.1:c.5353_5355del | NP_001230937.1:p.Arg1785del | |
| NM_004321.6:c.5050_5052del | NP_004312.2:p.Arg1684del | |
| XM_005247022.1:c.5380_5382del | XP_005247079.1:p.Arg1794del | |
| XM_005247023.1:c.5377_5379del | XP_005247080.1:p.Arg1793del | |
| XM_005247024.1:c.5353_5355del | XP_005247081.1:p.Arg1785del | |
| XM_005247026.1:c.5077_5079del | XP_005247083.1:p.Arg1693del | |
| XM_005247027.1:c.5074_5076del | XP_005247084.1:p.Arg1692del | |
| XM_005247028.1:c.5050_5052del | XP_005247085.1:p.Arg1684del | |
| XM_006712605.1:c.5326_5328del | XP_006712668.1:p.Arg1776del | |
| XM_011511364.1:c.5380_5382del | XP_011509666.1:p.Arg1794del | |
| XM_011511365.1:c.5104_5106del | XP_011509667.1:p.Arg1702del | |
| XM_011511366.1:c.4375_4377del | XP_011509668.1:p.Arg1459del | |
| XM_011511367.1:c.4375_4377del | XP_011509669.1:p.Arg1459del | |
| NM_001320705.1:c.5077_5079del | NP_001307634.1:p.Arg1693del | |
| NM_001330289.1:c.5104_5106del | NP_001317218.1:p.Arg1702del | |
| NM_001330290.1:c.5152_5154del | NP_001317219.1:p.Arg1718del | |
| NM_004321.7:c.5050_5052del | NP_004312.2:p.Arg1684del | |
| NM_001320705.2:c.5077_5079del | NP_001307634.1:p.Arg1693del | |
| NM_001330289.2:c.5104_5106del | NP_001317218.1:p.Arg1702del | |
| NM_001330290.2:c.5152_5154del | NP_001317219.1:p.Arg1718del | |
| NM_001244008.2:c.5353_5355del MANE Select | NP_001230937.1:p.Arg1785del | |
| NM_001379631.1:c.5428_5430del | NP_001366560.1:p.Arg1810del | |
| NM_001379632.1:c.5329_5331del | NP_001366561.1:p.Arg1777del | |
| NM_001379633.1:c.5326_5328del | NP_001366562.1:p.Arg1776del | |
| NM_001379634.1:c.5179_5181del | NP_001366563.1:p.Arg1727del | |
| NM_001379635.1:c.5176_5178del | NP_001366564.1:p.Arg1726del | |
| NM_001379636.1:c.5164_5166del | NP_001366565.1:p.Arg1722del | |
| NM_001379637.1:c.5125_5127del | NP_001366566.1:p.Arg1709del | |
| NM_001379638.1:c.5101_5103del | NP_001366567.1:p.Arg1701del | |
| NM_001379639.1:c.5074_5076del | NP_001366568.1:p.Arg1692del | |
| NM_001379640.1:c.5047_5049del | NP_001366569.1:p.Arg1683del | |
| NM_001379641.1:c.5014_5016del | NP_001366570.1:p.Arg1672del | |
| NM_001379642.1:c.5353_5355del | NP_001366571.1:p.Arg1785del | |
| NM_001379645.1:c.5326_5328del | NP_001366574.1:p.Arg1776del | |
| NM_001379646.1:c.5176_5178del | NP_001366575.1:p.Arg1726del | |
| NM_001379648.1:c.5152_5154del | NP_001366577.1:p.Arg1718del | |
| NM_001379649.1:c.5077_5079del | NP_001366578.1:p.Arg1693del | |
| NM_001379650.1:c.5050_5052del | NP_001366579.1:p.Arg1684del | |
| NM_001379651.1:c.5050_5052del | NP_001366580.1:p.Arg1684del | |
| NM_001379653.1:c.5050_5052del | NP_001366582.1:p.Arg1684del | |
| NM_004321.8:c.5050_5052del | NP_004312.2:p.Arg1684del |