Linked Data
gnomAD v4:
16-89179515-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89179516del , CM000678.2:g.89179516del | GRCh38 |
| NC_000016.9:g.89245924del , CM000678.1:g.89245924del | GRCh37 |
| NC_000016.8:g.87773425del | NCBI36 |
| NG_012055.1:g.12762del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289746.3:c.143del MANE Select | ENSP00000289746.2:p.Val48AlafsTer? | |
| ENST00000289746.2:c.143del | ENSP00000289746.2:p.Val48AlafsTer? | |
| ENST00000521087.5:n.208del | ||
| ENST00000524089.1:n.208del | ||
| NM_004933.2:c.143del | NP_004924.1:p.Val48AlafsTer? | |
| XM_011522806.1:c.143del | XP_011521108.1:p.Val48AlafsTer? | |
| NM_004933.3:c.143del MANE Select | NP_004924.1:p.Val48AlafsTer? |