Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367855_73367856delinsAT , CM000677.2:g.73367855_73367856delinsAT | GRCh38 |
| NC_000015.9:g.73660196_73660197delinsAT , CM000677.1:g.73660196_73660197delinsAT | GRCh37 |
| NC_000015.8:g.71447249_71447250delinsAT | NCBI36 |
| NG_009063.1:g.6409_6410delinsAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.415_416delinsAT MANE Select | ENSP00000261917.3:p.Pro139Ile | |
| ENST00000261917.3:c.415_416delinsAT | ENSP00000261917.3:p.Pro139Ile | |
| NM_005477.2:c.415_416delinsAT | NP_005468.1:p.Pro139Ile | |
| NM_005477.3:c.415_416delinsAT MANE Select | NP_005468.1:p.Pro139Ile |