Linked Data
ClinVar Variation Id:
224785
ClinVar RCV Id:
RCV000416791
dbSNP Id:
rs1057519375
PubMed:
PMID:27964710
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41178933_41178934del , CM000684.2:g.41178933_41178934del | GRCh38 |
| NC_000022.10:g.41574937_41574938del , CM000684.1:g.41574937_41574938del | GRCh37 |
| NC_000022.9:g.39904883_39904884del | NCBI36 |
| NG_009817.1:g.91324_91325del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263253.9:c.7222_7223del MANE Select | ENSP00000263253.7:p.Gln2408GlufsTer? | |
| ENST00000674155.1:c.7144_7145del | ENSP00000501078.1:p.Gln2382GlufsTer? | |
| ENST00000263253.8:c.7222_7223del | ENSP00000263253.7:p.Gln2408GlufsTer? | |
| NM_001429.3:c.7222_7223del | NP_001420.2:p.Gln2408GlufsTer? | |
| XM_006724165.2:c.7144_7145del | XP_006724228.1:p.Gln2382GlufsTer? | |
| NM_001362843.1:c.7144_7145del | NP_001349772.1:p.Gln2382GlufsTer? | |
| NM_001429.4:c.7222_7223del MANE Select | NP_001420.2:p.Gln2408GlufsTer? | |
| NM_001362843.2:c.7144_7145del | NP_001349772.1:p.Gln2382GlufsTer? |