Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69647868_69647869del , CM000673.2:g.69647868_69647869del | GRCh38 |
| NC_000011.9:g.69462636_69462637del , CM000673.1:g.69462636_69462637del | GRCh37 |
| NC_000011.8:g.69171817_69171818del | NCBI36 |
| NG_007375.1:g.11764_11765del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.575-126_575-125del MANE Select | ENSP00000227507.2:n.575-126_575-125del | |
| ENST00000227507.2:c.575-126_575-125del | ENSP00000227507.2:n.575-126_575-125del | |
| ENST00000536559.1:c.199-126_199-125del | ENSP00000438482.1:n.199-126_199-125del | |
| ENST00000545484.1:n.281-126_281-125del | ||
| NM_053056.2:c.575-126_575-125del | NP_444284.1:n.575-126_575-125del | |
| XM_006718653.2:c.599-126_599-125del | XP_006718716.1:n.599-126_599-125del | |
| NM_053056.3:c.575-126_575-125del MANE Select | NP_444284.1:n.575-126_575-125del |