Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55096531_55096541del , CM000666.2:g.55096531_55096541del | GRCh38 |
| NC_000004.11:g.55962698_55962708del , CM000666.1:g.55962698_55962708del | GRCh37 |
| NC_000004.10:g.55657455_55657465del | NCBI36 |
| NG_012004.1:g.34055_34065del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.2615-199_2615-189del MANE Select | ENSP00000263923.4:n.2615-199_2615-189del | |
| ENST00000647068.1:n.2628-199_2628-189del | ||
| ENST00000263923.4:c.2615-199_2615-189del | ENSP00000263923.4:n.2615-199_2615-189del | |
| ENST00000509309.1:n.180_190del | ||
| NM_002253.2:c.2615-199_2615-189del | NP_002244.1:n.2615-199_2615-189del | |
| NM_002253.3:c.2615-199_2615-189del | NP_002244.1:n.2615-199_2615-189del | |
| NM_002253.4:c.2615-199_2615-189del MANE Select | NP_002244.1:n.2615-199_2615-189del |