Linked Data
ClinVar Variation Id:
51037
ClinVar RCV Id:
RCV000577545
dbSNP Id:
rs397507567
PubMed:
PMID:17018160
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32398584del , CM000675.2:g.32398584del | GRCh38 |
| NC_000013.10:g.32972721del , CM000675.1:g.32972721del | GRCh37 |
| NC_000013.9:g.31870721del | NCBI36 |
| NG_012772.3:g.88105del , LRG_293:g.88105del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.*594del | ENSP00000434898.2:n.*594del | |
| ENST00000528762.2:c.*1438del | ENSP00000433168.2:n.*1438del | |
| ENST00000530893.7:c.9702del | ENSP00000499438.2:p.Gly3235GlufsTer25 | |
| ENST00000665585.2:c.*1633del | ENSP00000499570.2:n.*1633del | |
| ENST00000700202.2:c.10020del | ENSP00000514856.2:p.Gly3341GlufsTer25 | |
| ENST00000700202.1:c.2487del | ENSP00000514856.1:p.Gly830GlufsTer25 | |
| ENST00000700203.1:n.2198del | ||
| ENST00000380152.8:c.10071del MANE Select | ENSP00000369497.3:p.Gly3358GlufsTer25 | |
| ENST00000544455.6:c.10071del | ENSP00000439902.1:p.Gly3358GlufsTer25 | |
| ENST00000614259.2:c.10079del | ENSP00000506251.1:n.10079del | |
| ENST00000680887.1:c.10071del | ENSP00000505508.1:p.Gly3358GlufsTer25 | |
| ENST00000380152.7:c.10071del | ENSP00000369497.3:p.Gly3358GlufsTer25 | |
| ENST00000544455.5:c.10071del | ENSP00000439902.1:p.Gly3358GlufsTer25 | |
| NM_000059.3:c.10071del , LRG_293t1:c.10071del | NP_000050.2:p.Gly3358GlufsTer25 | |
| XM_011535203.1:c.10071del | XP_011533505.1:p.Gly3358GlufsTer25 | |
| XM_011535204.1:c.9975del | XP_011533506.1:p.Gly3326GlufsTer25 | |
| NM_000059.4:c.10071del MANE Select | NP_000050.3:p.Gly3358GlufsTer25 |