Linked Data
ClinVar Variation Id:
55104
ClinVar RCV Id:
RCV000257871
dbSNP Id:
rs397509139
MyVariant Identifiers:
chr17:g.41243036_41243039dupAGAT (hg19)
chr17:g.41243035_41243036insAGAT (hg19)
chr17:g.43091019_43091022dupAGAT (hg38)
chr17:g.43091018_43091019insAGAT (hg38)
PubMed:
PMID:11149413
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091019_43091022dup , CM000679.2:g.43091019_43091022dup | GRCh38 |
| NC_000017.10:g.41243036_41243039dup , CM000679.1:g.41243036_41243039dup | GRCh37 |
| NC_000017.9:g.38496562_38496565dup | NCBI36 |
| NG_005905.2:g.126962_126965dup , LRG_292:g.126962_126965dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.4107_4110dup | ENSP00000417241.2:p.Gly1371IlefsTer4 | |
| ENST00000470026.6:c.4107_4110dup | ENSP00000419274.2:p.Gly1371IlefsTer4 | |
| ENST00000473961.6:c.3981_3984dup | ENSP00000420201.2:p.Gly1329IlefsTer4 | |
| ENST00000476777.6:c.4104_4107dup | ENSP00000417554.2:p.Gly1370IlefsTer4 | |
| ENST00000477152.6:c.4029_4032dup | ENSP00000419988.2:p.Gly1345IlefsTer4 | |
| ENST00000478531.6:c.795_798dup | ENSP00000420412.2:p.Gly267IlefsTer4 | |
| ENST00000489037.2:c.4029_4032dup | ENSP00000420781.2:p.Gly1345IlefsTer4 | |
| ENST00000493919.6:c.657_660dup | ENSP00000418819.2:p.Gly221IlefsTer4 | |
| ENST00000494123.6:c.4107_4110dup | ENSP00000419103.2:p.Gly1371IlefsTer4 | |
| ENST00000497488.2:c.3219_3222dup | ENSP00000418986.2:p.Gly1075IlefsTer4 | |
| ENST00000618469.2:c.4107_4110dup | ENSP00000478114.2:p.Gly1371IlefsTer4 | |
| ENST00000634433.2:c.3984_3987dup | ENSP00000489431.2:p.Gly1330IlefsTer4 | |
| ENST00000644379.2:c.4107_4110dup | ENSP00000496570.2:p.Gly1371IlefsTer4 | |
| ENST00000644555.2:c.657_660dup | ENSP00000494614.2:p.Gly221IlefsTer4 | |
| ENST00000652672.2:c.3966_3969dup | ENSP00000498906.2:p.Gly1324IlefsTer4 | |
| ENST00000484087.6:c.675_678dup | ENSP00000419481.2:p.Gly227IlefsTer4 | |
| ENST00000700182.1:c.717_720dup | ENSP00000514849.1:p.Gly241IlefsTer4 | |
| ENST00000357654.9:c.4107_4110dup MANE Select | ENSP00000350283.3:p.Gly1371IlefsTer4 | |
| ENST00000471181.7:c.4107_4110dup | ENSP00000418960.2:p.Gly1371IlefsTer4 | |
| ENST00000644379.1:c.428_431dup | ||
| ENST00000352993.7:c.681_684dup | ENSP00000312236.5:p.Gly229IlefsTer4 | |
| ENST00000357654.7:c.4107_4110dup | ENSP00000350283.3:p.Gly1371IlefsTer4 | |
| ENST00000461221.5:c.*3890_*3893dup | ENSP00000418548.1:n.*3890_*3893dup | |
| ENST00000461574.1:c.401_404dup | ||
| ENST00000468300.5:c.798_801dup | ENSP00000417148.1:p.Gly268IlefsTer4 | |
| ENST00000471181.6:c.4107_4110dup | ENSP00000418960.2:p.Gly1371IlefsTer4 | |
| ENST00000478531.5:c.795_798dup | ENSP00000420412.1:p.Gly267IlefsTer4 | |
| ENST00000484087.5:c.420_423dup | ENSP00000419481.1:p.Gly142IlefsTer4 | |
| ENST00000487825.5:c.423_426dup | ENSP00000418212.1:p.Gly143IlefsTer4 | |
| ENST00000491747.6:c.798_801dup | ENSP00000420705.2:p.Gly268IlefsTer4 | |
| ENST00000493795.5:c.3966_3969dup | ENSP00000418775.1:p.Gly1324IlefsTer4 | |
| ENST00000493919.5:c.657_660dup | ENSP00000418819.1:p.Gly221IlefsTer4 | |
| ENST00000586385.5:c.5-27071_5-27068dup | ENSP00000465818.1:n.5-27071_5-27068dup | |
| ENST00000591534.5:c.-43-16501_-43-16498dup | ENSP00000467329.1:n.-43-16501_-43-16498du... | |
| ENST00000591849.5:c.-99+34249_-99+34252dup | ENSP00000465347.1:n.-99+34249_-99+34252du... | |
| NM_007294.3:c.4107_4110dup , LRG_292t1:c.4107_4110dup | NP_009225.1:p.Gly1371IlefsTer4 | |
| NM_007297.3:c.3966_3969dup | NP_009228.2:p.Gly1324IlefsTer4 | |
| NM_007298.3:c.798_801dup | NP_009229.2:p.Gly268IlefsTer4 | |
| NM_007299.3:c.798_801dup | NP_009230.2:p.Gly268IlefsTer4 | |
| NM_007300.3:c.4107_4110dup | NP_009231.2:p.Gly1371IlefsTer4 | |
| NR_027676.1:n.4243_4246dup | ||
| NM_007294.4:c.4107_4110dup MANE Select | NP_009225.1:p.Gly1371IlefsTer4 | |
| NM_007297.4:c.3966_3969dup | NP_009228.2:p.Gly1324IlefsTer4 | |
| NM_007299.4:c.798_801dup | NP_009230.2:p.Gly268IlefsTer4 | |
| NM_007300.4:c.4107_4110dup | NP_009231.2:p.Gly1371IlefsTer4 | |
| NR_027676.2:n.4284_4287dup |