Linked Data
ClinVar Variation Id:
550261
ClinVar RCV Id:
RCV000664961
dbSNP Id:
rs747376723
ExAC:
11:68549314 CCTT / C
gnomAD v2:
11-68549314-CCTT-C
gnomAD v3:
11-68781846-CCTT-C
gnomAD v4:
11-68781846-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68781851_68781853del , CM000673.2:g.68781851_68781853del | GRCh38 |
| NC_000011.9:g.68549319_68549321del , CM000673.1:g.68549319_68549321del | GRCh37 |
| NC_000011.8:g.68305895_68305897del | NCBI36 |
| NG_011801.1:g.65083_65085del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.1274_1276del MANE Select | ENSP00000265641.4:p.Glu425del | |
| ENST00000265641.9:c.1274_1276del | ENSP00000265641.4:p.Glu425del | |
| ENST00000376618.6:c.1274_1276del | ENSP00000365803.2:p.Glu425del | |
| ENST00000539743.5:c.1274_1276del | ENSP00000446108.1:p.Glu425del | |
| ENST00000540367.5:c.1274_1276del | ENSP00000439084.1:p.Glu425del | |
| NM_001031847.2:c.1274_1276del | NP_001027017.1:p.Glu425del | |
| NM_001876.3:c.1274_1276del | NP_001867.2:p.Glu425del | |
| XM_005273762.1:c.1370_1372del | XP_005273819.1:p.Glu457del | |
| XM_005273763.1:c.1370_1372del | XP_005273820.1:p.Glu457del | |
| XM_005273762.3:c.1370_1372del | XP_005273819.1:p.Glu457del | |
| XM_017017220.1:c.1274_1276del | XP_016872709.1:p.Glu425del | |
| NM_001876.4:c.1274_1276del MANE Select | NP_001867.2:p.Glu425del | |
| NM_001031847.3:c.1274_1276del | NP_001027017.1:p.Glu425del |