Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89179610del , CM000678.2:g.89179610del | GRCh38 |
| NC_000016.9:g.89246018del , CM000678.1:g.89246018del | GRCh37 |
| NC_000016.8:g.87773519del | NCBI36 |
| NG_012055.1:g.12856del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.201+36del MANE Select | ENSP00000289746.2:n.201+36del | |
| ENST00000289746.2:c.201+36del | ENSP00000289746.2:n.201+36del | |
| ENST00000521087.5:n.266+36del | ||
| ENST00000524089.1:n.266+36del | ||
| NM_004933.2:c.201+36del | NP_004924.1:n.201+36del | |
| XM_011522806.1:c.201+36del | XP_011521108.1:n.201+36del | |
| NM_004933.3:c.201+36del MANE Select | NP_004924.1:n.201+36del |