Linked Data
gnomAD v4:
1-160881986-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160881987del , CM000663.2:g.160881987del | GRCh38 |
| NC_000001.10:g.160851777del , CM000663.1:g.160851777del | GRCh37 |
| NC_000001.9:g.159118401del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326245.4:c.375del MANE Select | ENSP00000323587.3:p.Ala126GlnfsTer? | |
| ENST00000326245.3:c.375del | ENSP00000323587.3:p.Ala126GlnfsTer? | |
| ENST00000464077.1:n.309del | ||
| NM_017625.2:c.375del | NP_060095.2:p.Ala126GlnfsTer? | |
| NM_017625.3:c.375del MANE Select | NP_060095.2:p.Ala126GlnfsTer? |