Linked Data
gnomAD v4:
2-149570041-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149570042del , CM000664.2:g.149570042del | GRCh38 |
| NC_000002.11:g.150426556del , CM000664.1:g.150426556del | GRCh37 |
| NC_000002.10:g.150134802del | NCBI36 |
| NG_009189.1:g.22775del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.823del MANE Select | ENSP00000301920.5:p.Val275LeufsTer2 | |
| ENST00000303319.9:c.823del | ENSP00000301920.5:p.Val275LeufsTer2 | |
| ENST00000422782.2:c.925del | ENSP00000408331.2:p.Val309LeufsTer2 | |
| ENST00000428879.5:c.823del | ENSP00000389060.1:p.Val275LeufsTer2 | |
| NM_015702.2:c.823del | NP_056517.1:p.Val275LeufsTer2 | |
| NM_015702.3:c.823del MANE Select | NP_056517.1:p.Val275LeufsTer2 |