dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20589098_20589099del , CM000663.2:g.20589098_20589099del | GRCh38 |
| NC_000001.10:g.20915591_20915592del , CM000663.1:g.20915591_20915592del | GRCh37 |
| NC_000001.9:g.20788178_20788179del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375071.4:c.-32_-31del MANE Select | ENSP00000364212.3:n.-32_-31del | |
| ENST00000375071.3:c.-32_-31del | ENSP00000364212.3:n.-32_-31del | |
| ENST00000461985.1:n.13_14del | ||
| NM_001785.2:c.-32_-31del | NP_001776.1:n.-32_-31del | |
| NM_001785.3:c.-32_-31del MANE Select | NP_001776.1:n.-32_-31del |