Linked Data
ClinVar Variation Id:
51509
dbSNP Id:
rs80359393
gnomAD v2:
13-32890627-A-AT
gnomAD v3:
13-32316490-A-AT
gnomAD v4:
13-32316490-A-AT
MyVariant Identifiers:
chr13:g.32890633dupT (hg19)
chr13:g.32890627_32890628insT (hg19)
chr13:g.32316496dupT (hg38)
chr13:g.32316490_32316491insT (hg38)
PubMed:
PMID:11139249
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32316496dup , CM000675.2:g.32316496dup | GRCh38 |
| NC_000013.10:g.32890633dup , CM000675.1:g.32890633dup | GRCh37 |
| NC_000013.9:g.31788633dup | NCBI36 |
| NG_012772.3:g.6017dup , LRG_293:g.6017dup | |
| NG_017006.1:g.464dup | |
| NG_017006.2:g.3873dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470094.2:c.36dup | ENSP00000434898.2:p.Glu13Ter | |
| ENST00000528762.2:c.36dup | ENSP00000433168.2:p.Glu13Ter | |
| ENST00000530893.7:c.-330dup | ENSP00000499438.2:n.-330dup | |
| ENST00000665585.2:c.36dup | ENSP00000499570.2:p.Glu13Ter | |
| ENST00000666593.2:c.36dup | ENSP00000499256.2:p.Glu13Ter | |
| ENST00000700202.2:c.36dup | ENSP00000514856.2:p.Glu13Ter | |
| ENST00000700199.1:n.160dup | ||
| ENST00000700200.1:n.160dup | ||
| ENST00000700201.1:c.36dup | ENSP00000514855.1:p.Glu13Ter | |
| ENST00000380152.8:c.36dup MANE Select | ENSP00000369497.3:p.Glu13Ter | |
| ENST00000544455.6:c.36dup | ENSP00000439902.1:p.Glu13Ter | |
| ENST00000614259.2:c.36dup | ENSP00000506251.1:p.Glu13Ter | |
| ENST00000680887.1:c.36dup | ENSP00000505508.1:p.Glu13Ter | |
| ENST00000380152.7:c.36dup | ENSP00000369497.3:p.Glu13Ter | |
| ENST00000530893.6:n.238dup | ||
| ENST00000544455.5:c.36dup | ENSP00000439902.1:p.Glu13Ter | |
| ENST00000614259.1:n.36dup | ||
| NM_000059.3:c.36dup , LRG_293t1:c.36dup | NP_000050.2:p.Glu13Ter | |
| XM_011535203.1:c.36dup | XP_011533505.1:p.Glu13Ter | |
| XM_011535204.1:c.36dup | XP_011533506.1:p.Glu13Ter | |
| XM_011535205.1:c.36dup | XP_011533507.1:p.Glu13Ter | |
| NM_000059.4:c.36dup MANE Select | NP_000050.3:p.Glu13Ter |