Linked Data
gnomAD v4:
2-182838291-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182838295del , CM000664.2:g.182838295del | GRCh38 |
| NC_000002.11:g.183703023del , CM000664.1:g.183703023del | GRCh37 |
| NC_000002.10:g.183411268del | NCBI36 |
| NG_017197.1:g.33479del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295113.5:c.797+117del MANE Select | ENSP00000295113.4:n.797+117del | |
| ENST00000295113.4:c.797+117del | ENSP00000295113.4:n.797+117del | |
| NM_001463.3:c.797+117del | NP_001454.2:n.797+117del | |
| NM_001463.4:c.797+117del MANE Select | NP_001454.2:n.797+117del |