Linked Data
ClinVar Variation Id:
52615
dbSNP Id:
rs80359714
gnomAD v4:
13-32371000-AAGAG-A
PubMed:
PMID:21702907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32371003_32371006del , CM000675.2:g.32371003_32371006del | GRCh38 |
| NC_000013.10:g.32945140_32945143del , CM000675.1:g.32945140_32945143del | GRCh37 |
| NC_000013.9:g.31843140_31843143del | NCBI36 |
| NG_012772.3:g.60524_60527del , LRG_293:g.60524_60527del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.8535_8538del | ENSP00000434898.2:p.Glu2846LysfsTer16 | |
| ENST00000528762.2:c.8535_8538del | ENSP00000433168.2:p.Glu2846LysfsTer16 | |
| ENST00000530893.7:c.8166_8169del | ENSP00000499438.2:p.Glu2723LysfsTer16 | |
| ENST00000665585.2:c.8535_8538del | ENSP00000499570.2:p.Glu2846LysfsTer16 | |
| ENST00000666593.2:c.8535_8538del | ENSP00000499256.2:p.Glu2846LysfsTer16 | |
| ENST00000700202.2:c.8535_8538del | ENSP00000514856.2:p.Glu2846LysfsTer16 | |
| ENST00000700202.1:c.1002_1005del | ENSP00000514856.1:p.Glu335LysfsTer16 | |
| ENST00000380152.8:c.8535_8538del MANE Select | ENSP00000369497.3:p.Glu2846LysfsTer16 | |
| ENST00000544455.6:c.8535_8538del | ENSP00000439902.1:p.Glu2846LysfsTer16 | |
| ENST00000614259.2:c.8543_8546del | ENSP00000506251.1:n.8543_8546del | |
| ENST00000665585.1:c.1100_1103del | ||
| ENST00000680887.1:c.8535_8538del | ENSP00000505508.1:p.Glu2846LysfsTer16 | |
| ENST00000380152.7:c.8535_8538del | ENSP00000369497.3:p.Glu2846LysfsTer16 | |
| ENST00000528762.1:c.33_36del | ENSP00000433168.1:p.Glu12LysfsTer16 | |
| ENST00000544455.5:c.8535_8538del | ENSP00000439902.1:p.Glu2846LysfsTer16 | |
| NM_000059.3:c.8535_8538del , LRG_293t1:c.8535_8538del | NP_000050.2:p.Glu2846LysfsTer16 | |
| XM_011535203.1:c.8535_8538del | XP_011533505.1:p.Glu2846LysfsTer16 | |
| XM_011535204.1:c.8439_8442del | XP_011533506.1:p.Glu2814LysfsTer16 | |
| XM_011535205.1:c.8535_8538del | XP_011533507.1:p.Glu2846LysfsTer16 | |
| NM_000059.4:c.8535_8538del MANE Select | NP_000050.3:p.Glu2846LysfsTer16 |