Linked Data
gnomAD v4:
4-55081954-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55081957del , CM000666.2:g.55081957del | GRCh38 |
| NC_000004.11:g.55948124del , CM000666.1:g.55948124del | GRCh37 |
| NC_000004.10:g.55642881del | NCBI36 |
| NG_012004.1:g.48641del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.3848+1del | ||
| ENST00000647068.1:n.3861+1del | ||
| ENST00000263923.4:c.3848+1del | ||
| NM_002253.2:c.3848+1del | ||
| NM_002253.3:c.3848+1del | ||
| NM_002253.4:c.3848+1del |