Linked Data
ClinVar Variation Id:
216971
ClinVar RCV Id:
RCV000198418
dbSNP Id:
rs863224901
PubMed:
PMID:25326637
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136513108del , CM000671.2:g.136513108del | GRCh38 |
| NC_000009.11:g.139407560del , CM000671.1:g.139407560del | GRCh37 |
| NC_000009.10:g.138527381del | NCBI36 |
| NG_007458.1:g.37679del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645828.1:n.187del | ||
| ENST00000646957.2:n.3del | ||
| ENST00000651671.1:c.2380del MANE Select | ENSP00000498587.1:p.Glu794SerfsTer8 | |
| ENST00000679595.1:c.2380del | ENSP00000506241.1:p.Glu794SerfsTer8 | |
| ENST00000680133.1:c.2266del | ENSP00000505319.1:p.Glu756SerfsTer8 | |
| ENST00000680218.1:c.2380del | ENSP00000505339.1:p.Glu794SerfsTer8 | |
| ENST00000680668.1:c.2266del | ENSP00000506336.1:p.Glu756SerfsTer8 | |
| ENST00000680924.1:c.2380del | ENSP00000506031.1:p.Glu794SerfsTer8 | |
| ENST00000681135.1:c.2380del | ENSP00000506636.1:p.Glu794SerfsTer8 | |
| ENST00000681454.1:c.*1616del | ENSP00000505763.1:n.*1616del | |
| ENST00000277541.6:c.2380del | ENSP00000277541.6:p.Glu794SerfsTer8 | |
| NM_017617.3:c.2380del | NP_060087.3:p.Glu794SerfsTer8 | |
| XM_011518717.1:c.1681del | XP_011517019.1:p.Glu561SerfsTer8 | |
| NM_017617.5:c.2380del MANE Select | NP_060087.3:p.Glu794SerfsTer8 | |
| XM_011518717.2:c.1657del | XP_011517019.2:p.Glu553SerfsTer8 |