Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55096362_55096363del , CM000666.2:g.55096362_55096363del | GRCh38 |
| NC_000004.11:g.55962529_55962530del , CM000666.1:g.55962529_55962530del | GRCh37 |
| NC_000004.10:g.55657286_55657287del | NCBI36 |
| NG_012004.1:g.34235_34236del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.2615-19_2615-18del MANE Select | ENSP00000263923.4:n.2615-19_2615-18del | |
| ENST00000647068.1:n.2628-19_2628-18del | ||
| ENST00000263923.4:c.2615-19_2615-18del | ENSP00000263923.4:n.2615-19_2615-18del | |
| ENST00000509309.1:n.360_361del | ||
| NM_002253.2:c.2615-19_2615-18del | NP_002244.1:n.2615-19_2615-18del | |
| NM_002253.3:c.2615-19_2615-18del | NP_002244.1:n.2615-19_2615-18del | |
| NM_002253.4:c.2615-19_2615-18del MANE Select | NP_002244.1:n.2615-19_2615-18del |