Linked Data
gnomAD v4:
5-159323268-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323269del , CM000667.2:g.159323269del | GRCh38 |
| NC_000005.9:g.158750277del , CM000667.1:g.158750277del | GRCh37 |
| NC_000005.8:g.158682855del | NCBI36 |
| NG_009618.1:g.12205del , LRG_71:g.12205del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-148-2749del | ENSP00000512849.1:n.-148-2749del | |
| ENST00000696751.1:c.149del | ENSP00000512850.1:p.Cys50LeufsTer20 | |
| ENST00000231228.3:c.149del MANE Select | ENSP00000231228.2:p.Cys50LeufsTer20 | |
| ENST00000231228.2:c.149del | ENSP00000231228.2:p.Cys50LeufsTer20 | |
| NM_002187.2:c.149del , LRG_71t1:c.149del | NP_002178.2:p.Cys50LeufsTer20 | |
| XR_001742945.1:n.148-2265del | ||
| NM_002187.3:c.149del MANE Select | NP_002178.2:p.Cys50LeufsTer20 |