Linked Data
ClinVar Variation Id:
39706
ClinVar RCV Id:
RCV003588567
dbSNP Id:
rs587776933
MyVariant Identifiers:
chr3:g.178928081_178928083del (hg19)
chr3:g.178928079_178928081del (hg19)
chr3:g.179210293_179210295del (hg38)
chr3:g.179210291_179210293del (hg38)
PubMed:
PMID:22729224
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179210293_179210295del , CM000665.2:g.179210293_179210295del | GRCh38 |
| NC_000003.11:g.178928081_178928083del , CM000665.1:g.178928081_178928083del | GRCh37 |
| NC_000003.10:g.180410775_180410777del | NCBI36 |
| NG_012113.2:g.66771_66773del , LRG_310:g.66771_66773del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263967.4:c.1359_1361del MANE Select | ENSP00000263967.3:p.Glu453del | |
| ENST00000643187.1:c.1359_1361del | ENSP00000493507.1:p.Glu453del | |
| ENST00000674534.1:n.1113_1115del | ||
| ENST00000675467.1:n.4166_4168del | ||
| ENST00000675786.1:c.1359_1361del | ENSP00000502323.1:p.Glu453del | |
| ENST00000263967.3:c.1359_1361del | ENSP00000263967.3:p.Glu453del | |
| NM_006218.2:c.1359_1361del , LRG_310t1:c.1359_1361del | NP_006209.2:p.Glu453del | |
| XM_006713658.2:c.1359_1361del | XP_006713721.1:p.Glu453del | |
| XM_011512894.1:c.1359_1361del | XP_011511196.1:p.Glu453del | |
| NM_006218.3:c.1359_1361del | NP_006209.2:p.Glu453del | |
| XM_006713658.4:c.1359_1361del | XP_006713721.1:p.Glu453del | |
| XM_011512894.2:c.1359_1361del | XP_011511196.1:p.Glu453del | |
| NM_006218.4:c.1359_1361del MANE Select | NP_006209.2:p.Glu453del |