Linked Data
dbSNP Id:
rs875989821
gnomAD v3:
11-46702730-CGT-C
gnomAD v4:
11-46702730-CGT-C
PubMed:
PMID:25882705
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46702736_46702737del , CM000673.2:g.46702736_46702737del | GRCh38 |
| NC_000011.9:g.46724286_46724287del , CM000673.1:g.46724286_46724287del | GRCh37 |
| NC_000011.8:g.46680862_46680863del | NCBI36 |
| NG_052967.1:g.6970_6971del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000311764.3:c.363_364del MANE Select | ENSP00000309606.2:p.Ala122LeufsTer2 | |
| ENST00000311764.2:c.363_364del | ENSP00000309606.2:p.Ala122LeufsTer2 | |
| ENST00000526410.1:n.380_381del | ||
| ENST00000527008.1:n.22_23del | ||
| ENST00000534481.1:n.502_503del | ||
| NM_001184751.1:c.339_340del | NP_001171680.1:p.Ala114LeufsTer2 | |
| NM_024741.2:c.363_364del | NP_079017.1:p.Ala122LeufsTer2 | |
| NM_001184751.2:c.339_340del | NP_001171680.1:p.Ala114LeufsTer2 | |
| NM_024741.3:c.363_364del MANE Select | NP_079017.1:p.Ala122LeufsTer2 |