Linked Data
gnomAD v4:
22-45344077-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.45344083del , CM000684.2:g.45344083del | GRCh38 |
| NC_000022.10:g.45739964del , CM000684.1:g.45739964del | GRCh37 |
| NC_000022.9:g.44118628del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357450.9:c.*478del MANE Select | ENSP00000350036.4:n.*478del | |
| ENST00000357450.8:c.4186del | ENSP00000350036.4:n.4186del | |
| NM_001291501.1:c.*478del | NP_001278430.1:n.*478del | |
| NM_148674.4:c.*478del | NP_683515.4:n.*478del | |
| XM_011530144.1:c.*478del | XP_011528446.1:n.*478del | |
| XR_244368.3:n.4175del | ||
| XM_011530144.2:c.*478del | XP_011528446.1:n.*478del | |
| XR_244368.4:n.4220del | ||
| NM_148674.5:c.*478del MANE Select | NP_683515.4:n.*478del | |
| NM_001291501.2:c.*478del | NP_001278430.1:n.*478del |