Linked Data
ClinVar Variation Id:
51764
ClinVar RCV Id:
RCV000257431
dbSNP Id:
rs397507757
PubMed:
PMID:18821011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32339441_32339442insA , CM000675.2:g.32339441_32339442insA | GRCh38 |
| NC_000013.10:g.32913578_32913579insA , CM000675.1:g.32913578_32913579insA | GRCh37 |
| NC_000013.9:g.31811578_31811579insA | NCBI36 |
| NG_012772.3:g.28962_28963insA , LRG_293:g.28962_28963insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.5086_5087insA | ENSP00000434898.2:p.Gly1696GlufsTer4 | |
| ENST00000528762.2:c.5086_5087insA | ENSP00000433168.2:p.Gly1696GlufsTer4 | |
| ENST00000530893.7:c.4717_4718insA | ENSP00000499438.2:p.Gly1573GlufsTer4 | |
| ENST00000665585.2:c.5086_5087insA | ENSP00000499570.2:p.Gly1696GlufsTer4 | |
| ENST00000666593.2:c.5086_5087insA | ENSP00000499256.2:p.Gly1696GlufsTer4 | |
| ENST00000700202.2:c.5086_5087insA | ENSP00000514856.2:p.Gly1696GlufsTer4 | |
| ENST00000380152.8:c.5086_5087insA MANE Select | ENSP00000369497.3:p.Gly1696GlufsTer4 | |
| ENST00000544455.6:c.5086_5087insA | ENSP00000439902.1:p.Gly1696GlufsTer4 | |
| ENST00000614259.2:c.5086_5087insA | ENSP00000506251.1:p.Gly1696GlufsTer4 | |
| ENST00000680887.1:c.5086_5087insA | ENSP00000505508.1:p.Gly1696GlufsTer4 | |
| ENST00000380152.7:c.5086_5087insA | ENSP00000369497.3:p.Gly1696GlufsTer4 | |
| ENST00000544455.5:c.5086_5087insA | ENSP00000439902.1:p.Gly1696GlufsTer4 | |
| ENST00000614259.1:n.5086_5087insA | ||
| NM_000059.3:c.5086_5087insA , LRG_293t1:c.5086_5087insA | NP_000050.2:p.Gly1696GlufsTer4 | |
| XM_011535203.1:c.5086_5087insA | XP_011533505.1:p.Gly1696GlufsTer4 | |
| XM_011535204.1:c.5086_5087insA | XP_011533506.1:p.Gly1696GlufsTer4 | |
| XM_011535205.1:c.5086_5087insA | XP_011533507.1:p.Gly1696GlufsTer4 | |
| NM_000059.4:c.5086_5087insA MANE Select | NP_000050.3:p.Gly1696GlufsTer4 |