Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945949_138945950delinsGT , CM000665.2:g.138945949_138945950delinsGT | GRCh38 |
| NC_000003.11:g.138664791_138664792delinsGT , CM000665.1:g.138664791_138664792delinsGT | GRCh37 |
| NC_000003.10:g.140147481_140147482delinsGT | NCBI36 |
| NG_012454.1:g.6191_6192delinsAC | |
| NG_029796.1:g.3716_3717delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.773_774delinsAC MANE Select | ENSP00000497217.1:p.Tyr258= | |
| ENST00000330315.3:c.773_774delinsAC | ENSP00000333188.3:p.Tyr258= | |
| NM_023067.3:c.773_774delinsAC | NP_075555.1:p.Tyr258= | |
| NM_023067.4:c.773_774delinsAC MANE Select | NP_075555.1:p.Tyr258= |