Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112830565_112830566delinsAT , CM000664.2:g.112830565_112830566delinsAT | GRCh38 |
| NC_000002.11:g.113588142_113588143delinsAT , CM000664.1:g.113588142_113588143delinsAT | GRCh37 |
| NC_000002.10:g.113304613_113304614delinsAT | NCBI36 |
| NG_008851.1:g.11214_11215delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263341.7:c.605_606delinsAT MANE Select | ENSP00000263341.2:p.Asp202= | |
| ENST00000263341.6:c.605_606delinsAT | ENSP00000263341.2:p.Asp202= | |
| ENST00000491056.5:n.1412_1413delinsAT | ||
| NM_000576.2:c.605_606delinsAT | NP_000567.1:p.Asp202= | |
| XM_006712496.1:c.371_372delinsAT | XP_006712559.1:p.Asp124= | |
| XM_017003988.2:c.512_513delinsAT | XP_016859477.1:p.Asp171= | |
| NM_000576.3:c.605_606delinsAT MANE Select | NP_000567.1:p.Asp202= |