Linked Data
ClinVar Variation Id:
266444
ClinVar RCV Id:
RCV000257360
dbSNP Id:
rs886040202
MyVariant Identifiers:
chr17:g.41243038_41243039insAGAT (hg19)
chr17:g.43091021_43091022insAGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091021_43091022insAGAT , CM000679.2:g.43091021_43091022insAGAT | GRCh38 |
| NC_000017.10:g.41243038_41243039insAGAT , CM000679.1:g.41243038_41243039insAGAT | GRCh37 |
| NC_000017.9:g.38496564_38496565insAGAT | NCBI36 |
| NG_005905.2:g.126962_126963insATCT , LRG_292:g.126962_126963insATCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4107_4108insATCT | ENSP00000417241.2:p.Ser1370IlefsTer5 | |
| ENST00000470026.6:c.4107_4108insATCT | ENSP00000419274.2:p.Ser1370IlefsTer5 | |
| ENST00000473961.6:c.3981_3982insATCT | ENSP00000420201.2:p.Ser1328IlefsTer5 | |
| ENST00000476777.6:c.4104_4105insATCT | ENSP00000417554.2:p.Ser1369IlefsTer5 | |
| ENST00000477152.6:c.4029_4030insATCT | ENSP00000419988.2:p.Ser1344IlefsTer5 | |
| ENST00000478531.6:c.795_796insATCT | ENSP00000420412.2:p.Ser266IlefsTer5 | |
| ENST00000489037.2:c.4029_4030insATCT | ENSP00000420781.2:p.Ser1344IlefsTer5 | |
| ENST00000493919.6:c.657_658insATCT | ENSP00000418819.2:p.Ser220IlefsTer5 | |
| ENST00000494123.6:c.4107_4108insATCT | ENSP00000419103.2:p.Ser1370IlefsTer5 | |
| ENST00000497488.2:c.3219_3220insATCT | ENSP00000418986.2:p.Ser1074IlefsTer5 | |
| ENST00000618469.2:c.4107_4108insATCT | ENSP00000478114.2:p.Ser1370IlefsTer5 | |
| ENST00000634433.2:c.3984_3985insATCT | ENSP00000489431.2:p.Ser1329IlefsTer5 | |
| ENST00000644379.2:c.4107_4108insATCT | ENSP00000496570.2:p.Ser1370IlefsTer5 | |
| ENST00000644555.2:c.657_658insATCT | ENSP00000494614.2:p.Ser220IlefsTer5 | |
| ENST00000652672.2:c.3966_3967insATCT | ENSP00000498906.2:p.Ser1323IlefsTer5 | |
| ENST00000484087.6:c.675_676insATCT | ENSP00000419481.2:p.Ser226IlefsTer5 | |
| ENST00000700182.1:c.717_718insATCT | ENSP00000514849.1:p.Ser240IlefsTer5 | |
| ENST00000357654.9:c.4107_4108insATCT MANE Select | ENSP00000350283.3:p.Ser1370IlefsTer5 | |
| ENST00000471181.7:c.4107_4108insATCT | ENSP00000418960.2:p.Ser1370IlefsTer5 | |
| ENST00000644379.1:c.428_429insATCT | ||
| ENST00000352993.7:c.681_682insATCT | ENSP00000312236.5:p.Ser228IlefsTer5 | |
| ENST00000357654.7:c.4107_4108insATCT | ENSP00000350283.3:p.Ser1370IlefsTer5 | |
| ENST00000461221.5:c.*3890_*3891insATCT | ENSP00000418548.1:n.*3890_*3891insATCT | |
| ENST00000461574.1:c.401_402insATCT | ||
| ENST00000468300.5:c.798_799insATCT | ENSP00000417148.1:p.Ser267IlefsTer5 | |
| ENST00000471181.6:c.4107_4108insATCT | ENSP00000418960.2:p.Ser1370IlefsTer5 | |
| ENST00000478531.5:c.795_796insATCT | ENSP00000420412.1:p.Ser266IlefsTer5 | |
| ENST00000484087.5:c.420_421insATCT | ENSP00000419481.1:p.Ser141IlefsTer5 | |
| ENST00000487825.5:c.423_424insATCT | ENSP00000418212.1:p.Ser142IlefsTer5 | |
| ENST00000491747.6:c.798_799insATCT | ENSP00000420705.2:p.Ser267IlefsTer5 | |
| ENST00000493795.5:c.3966_3967insATCT | ENSP00000418775.1:p.Ser1323IlefsTer5 | |
| ENST00000493919.5:c.657_658insATCT | ENSP00000418819.1:p.Ser220IlefsTer5 | |
| ENST00000586385.5:c.5-27071_5-27070insATCT | ENSP00000465818.1:n.5-27071_5-27070insATCT | |
| ENST00000591534.5:c.-43-16501_-43-16500insATCT | ENSP00000467329.1:n.-43-16501_-43-16500insATCT | |
| ENST00000591849.5:c.-99+34249_-99+34250insATCT | ENSP00000465347.1:n.-99+34249_-99+34250insATCT | |
| NM_007294.3:c.4107_4108insATCT , LRG_292t1:c.4107_4108insATCT | NP_009225.1:p.Ser1370IlefsTer5 | |
| NM_007297.3:c.3966_3967insATCT | NP_009228.2:p.Ser1323IlefsTer5 | |
| NM_007298.3:c.798_799insATCT | NP_009229.2:p.Ser267IlefsTer5 | |
| NM_007299.3:c.798_799insATCT | NP_009230.2:p.Ser267IlefsTer5 | |
| NM_007300.3:c.4107_4108insATCT | NP_009231.2:p.Ser1370IlefsTer5 | |
| NR_027676.1:n.4243_4244insATCT | ||
| NM_007294.4:c.4107_4108insATCT MANE Select | NP_009225.1:p.Ser1370IlefsTer5 | |
| NM_007297.4:c.3966_3967insATCT | NP_009228.2:p.Ser1323IlefsTer5 | |
| NM_007299.4:c.798_799insATCT | NP_009230.2:p.Ser267IlefsTer5 | |
| NM_007300.4:c.4107_4108insATCT | NP_009231.2:p.Ser1370IlefsTer5 | |
| NR_027676.2:n.4284_4285insATCT |