Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875187_240875188del , CM000664.2:g.240875187_240875188del | GRCh38 |
| NC_000002.11:g.241814604_241814605del , CM000664.1:g.241814604_241814605del | GRCh37 |
| NC_000002.10:g.241463277_241463278del | NCBI36 |
| NG_008005.1:g.11443_11444del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.759_760del MANE Select | ENSP00000302620.3:p.Cys253Ter | |
| ENST00000307503.3:c.759_760del | ENSP00000302620.3:p.Cys253Ter | |
| ENST00000476698.1:n.411_412del | ||
| NM_000030.2:c.759_760del | NP_000021.1:p.Cys253Ter | |
| NM_000030.3:c.759_760del MANE Select | NP_000021.1:p.Cys253Ter |