Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400191_18400192delinsAC , CM000670.2:g.18400191_18400192delinsAC | GRCh38 |
| NC_000008.10:g.18257701_18257702delinsAC , CM000670.1:g.18257701_18257702delinsAC | GRCh37 |
| NC_000008.9:g.18301981_18301982delinsAC | NCBI36 |
| NG_012246.1:g.13947_13948delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.188_189delinsAC MANE Select | ENSP00000286479.3:p.Asn63= | |
| ENST00000286479.3:c.188_189delinsAC | ENSP00000286479.3:p.Asn63= | |
| ENST00000520116.1:c.-57-146_-57-145delinsAC | ENSP00000428416.1:n.-57-146_-57-145delinsAC | |
| NM_000015.2:c.188_189delinsAC | NP_000006.2:p.Asn63= | |
| XM_011544358.1:c.188_189delinsAC | XP_011542660.1:p.Asn63= | |
| XM_017012938.1:c.188_189delinsAC | XP_016868427.1:p.Asn63= | |
| NM_000015.3:c.188_189delinsAC MANE Select | NP_000006.2:p.Asn63= |