Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35849612_35849613del , CM000681.2:g.35849612_35849613del | GRCh38 |
| NC_000019.9:g.36340514_36340515del , CM000681.1:g.36340514_36340515del | GRCh37 |
| NC_000019.8:g.41032354_41032355del | NCBI36 |
| NG_013356.2:g.24677_24678del , LRG_693:g.24677_24678del | |
| NG_051206.1:g.2978_2979del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.651_652del MANE Select | ENSP00000368190.4:p.Cys217Ter | |
| ENST00000353632.6:c.651_652del | ENSP00000343634.5:p.Cys217Ter | |
| ENST00000378910.9:c.651_652del | ENSP00000368190.4:p.Cys217Ter | |
| NM_004646.3:c.651_652del , LRG_693t1:c.651_652del | NP_004637.1:p.Cys217Ter | |
| NM_004646.4:c.651_652del MANE Select | NP_004637.1:p.Cys217Ter |