Linked Data
gnomAD v4:
4-46123682-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46123683del , CM000666.2:g.46123683del | GRCh38 |
| NC_000004.11:g.46125700del , CM000666.1:g.46125700del | GRCh37 |
| NC_000004.10:g.45820457del | NCBI36 |
| NG_046964.1:g.5383del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295452.5:c.104+127del MANE Select | ENSP00000295452.4:n.104+127del | |
| ENST00000295452.4:c.104+127del | ENSP00000295452.4:n.104+127del | |
| NM_173536.3:c.104+127del | NP_775807.2:n.104+127del | |
| NM_173536.4:c.104+127del MANE Select | NP_775807.2:n.104+127del |