Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.8731880_8731883dup , CM000685.2:g.8731880_8731883dup | GRCh38 |
| NC_000023.10:g.8699921_8699924dup , CM000685.1:g.8699921_8699924dup | GRCh37 |
| NC_000023.9:g.8659921_8659924dup | NCBI36 |
| NG_007088.1:g.5304_5307dup | |
| NG_007088.2:g.5304_5307dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262648.8:c.154_157dup MANE Select | ENSP00000262648.3:p.Cys53Ter | |
| ENST00000262648.7:c.154_157dup | ENSP00000262648.3:p.Cys53Ter | |
| ENST00000619786.1:c.151_154dup | ENSP00000478734.1:p.Cys52Ter | |
| NM_000216.2:c.154_157dup | NP_000207.2:p.Cys53Ter | |
| XM_005274501.3:c.154_157dup | XP_005274558.1:p.Cys53Ter | |
| NM_000216.3:c.154_157dup | NP_000207.2:p.Cys53Ter | |
| XM_005274501.4:c.154_157dup | XP_005274558.1:p.Cys53Ter | |
| NM_000216.4:c.154_157dup MANE Select | NP_000207.2:p.Cys53Ter |