ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23339030del , CM000675.2:g.23339030del | GRCh38 |
| NC_000013.10:g.23913169del , CM000675.1:g.23913169del | GRCh37 |
| NC_000013.9:g.22811169del | NCBI36 |
| NG_012342.1:g.99674del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+14756del | ENSP00000508399.1:n.2185+14756del | |
| ENST00000682944.1:c.4874del | ENSP00000507173.1:p.Asn1625IlefsTer7 | |
| ENST00000683210.1:c.2185+14756del | ENSP00000506739.1:n.2185+14756del | |
| ENST00000683270.1:c.4838del | ENSP00000507624.1:p.Asn1613IlefsTer7 | |
| ENST00000683367.1:c.2177-9545del | ENSP00000507780.1:n.2177-9545del | |
| ENST00000683489.1:c.2291+2556del | ENSP00000508403.1:n.2291+2556del | |
| ENST00000683680.1:c.2318+2556del | ENSP00000507223.1:n.2318+2556del | |
| ENST00000684163.1:c.2203+7782del | ENSP00000508262.1:n.2203+7782del | |
| ENST00000684196.1:n.4543-9545del | ||
| ENST00000684325.1:c.2185+14756del | ENSP00000508121.1:n.2185+14756del | |
| ENST00000684385.1:c.2220+7782del | ENSP00000507855.1:n.2220+7782del | |
| ENST00000684497.1:c.2185+14756del | ENSP00000507057.1:n.2185+14756del | |
| ENST00000382292.9:c.4847del MANE Select | ENSP00000371729.3:p.Asn1616IlefsTer7 | |
| ENST00000423156.2:c.2186-9545del | ENSP00000390925.2:n.2186-9545del | |
| ENST00000455470.6:c.2431+2416del | ENSP00000406565.2:n.2431+2416del | |
| ENST00000382292.7:c.4847del | ENSP00000371729.3:p.Asn1616IlefsTer7 | |
| ENST00000382298.7:c.4847del | ENSP00000371735.3:p.Asn1616IlefsTer7 | |
| ENST00000402364.1:c.2597del | ENSP00000385844.1:p.Asn866IlefsTer7 | |
| ENST00000423156.1:c.1058-9545del | ENSP00000390925.1:n.1058-9545del | |
| ENST00000455470.5:c.2129+2416del | ||
| NM_001278055.1:c.4406del | NP_001264984.1:p.Asn1469IlefsTer7 | |
| NM_014363.5:c.4847del | NP_055178.3:p.Asn1616IlefsTer7 | |
| XM_005266338.1:c.4874del | XP_005266395.1:p.Asn1625IlefsTer7 | |
| XM_011535038.1:c.4898del | XP_011533340.1:p.Asn1633IlefsTer7 | |
| XM_011535039.1:c.4865del | XP_011533341.1:p.Asn1622IlefsTer7 | |
| XM_005266338.2:c.4874del | XP_005266395.1:p.Asn1625IlefsTer7 | |
| XM_011535039.2:c.4865del | XP_011533341.1:p.Asn1622IlefsTer7 | |
| XM_017020539.1:c.4838del | XP_016876028.1:p.Asn1613IlefsTer7 | |
| XM_024449337.1:c.4874del | XP_024305105.1:p.Asn1625IlefsTer7 | |
| NM_014363.6:c.4847del MANE Select | NP_055178.3:p.Asn1616IlefsTer7 | |
| NM_001278055.2:c.4406del | NP_001264984.1:p.Asn1469IlefsTer7 |