Linked Data
ClinVar Variation Id:
52614
dbSNP Id:
rs397507990
gnomAD v4:
13-32370998-GAA-G
PubMed:
PMID:20858050
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32371000_32371001del , CM000675.2:g.32371000_32371001del | GRCh38 |
| NC_000013.10:g.32945137_32945138del , CM000675.1:g.32945137_32945138del | GRCh37 |
| NC_000013.9:g.31843137_31843138del | NCBI36 |
| NG_012772.3:g.60521_60522del , LRG_293:g.60521_60522del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8532_8533del | ENSP00000434898.2:p.Glu2846GlyfsTer22 | |
| ENST00000528762.2:c.8532_8533del | ENSP00000433168.2:p.Glu2846GlyfsTer22 | |
| ENST00000530893.7:c.8163_8164del | ENSP00000499438.2:p.Glu2723GlyfsTer22 | |
| ENST00000665585.2:c.8532_8533del | ENSP00000499570.2:p.Glu2846GlyfsTer22 | |
| ENST00000666593.2:c.8532_8533del | ENSP00000499256.2:p.Glu2846GlyfsTer22 | |
| ENST00000700202.2:c.8532_8533del | ENSP00000514856.2:p.Glu2846GlyfsTer22 | |
| ENST00000700202.1:c.999_1000del | ENSP00000514856.1:p.Glu335GlyfsTer22 | |
| ENST00000380152.8:c.8532_8533del MANE Select | ENSP00000369497.3:p.Glu2846GlyfsTer22 | |
| ENST00000544455.6:c.8532_8533del | ENSP00000439902.1:p.Glu2846GlyfsTer22 | |
| ENST00000614259.2:c.8540_8541del | ENSP00000506251.1:n.8540_8541del | |
| ENST00000665585.1:c.1097_1098del | ||
| ENST00000680887.1:c.8532_8533del | ENSP00000505508.1:p.Glu2846GlyfsTer22 | |
| ENST00000380152.7:c.8532_8533del | ENSP00000369497.3:p.Glu2846GlyfsTer22 | |
| ENST00000528762.1:c.30_31del | ENSP00000433168.1:p.Glu12GlyfsTer22 | |
| ENST00000544455.5:c.8532_8533del | ENSP00000439902.1:p.Glu2846GlyfsTer22 | |
| NM_000059.3:c.8532_8533del , LRG_293t1:c.8532_8533del | NP_000050.2:p.Glu2846GlyfsTer22 | |
| XM_011535203.1:c.8532_8533del | XP_011533505.1:p.Glu2846GlyfsTer22 | |
| XM_011535204.1:c.8436_8437del | XP_011533506.1:p.Glu2814GlyfsTer22 | |
| XM_011535205.1:c.8532_8533del | XP_011533507.1:p.Glu2846GlyfsTer22 | |
| NM_000059.4:c.8532_8533del MANE Select | NP_000050.3:p.Glu2846GlyfsTer22 |