Linked Data
gnomAD v4:
4-39446931-CG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446935del , CM000666.2:g.39446935del | GRCh38 |
| NC_000004.11:g.39448555del , CM000666.1:g.39448555del | GRCh37 |
| NC_000004.10:g.39124950del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.2209del MANE Select | ENSP00000257408.4:p.Ala737ProfsTer? | |
| ENST00000257408.4:c.2209del | ENSP00000257408.4:p.Ala737ProfsTer? | |
| NM_175737.3:c.2209del | NP_783864.1:p.Ala737ProfsTer? | |
| XM_005262644.1:c.2182del | XP_005262701.1:p.Ala728ProfsTer? | |
| NM_175737.4:c.2209del MANE Select | NP_783864.1:p.Ala737ProfsTer? |