Linked Data
ClinVar Variation Id:
548184
ClinVar RCV Id:
RCV000660972
dbSNP Id:
rs1555586260
MyVariant Identifiers:
chr17:g.41243037_41243038insAGAT (hg19)
chr17:g.43091020_43091021insAGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091021_43091022insGATA , CM000679.2:g.43091021_43091022insGATA | GRCh38 |
| NC_000017.10:g.41243038_41243039insGATA , CM000679.1:g.41243038_41243039insGATA | GRCh37 |
| NC_000017.9:g.38496564_38496565insGATA | NCBI36 |
| NG_005905.2:g.126963_126964insATCT , LRG_292:g.126963_126964insATCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4108_4109insATCT | ENSP00000417241.2:p.Ser1370TyrfsTer5 | |
| ENST00000470026.6:c.4108_4109insATCT | ENSP00000419274.2:p.Ser1370TyrfsTer5 | |
| ENST00000473961.6:c.3982_3983insATCT | ENSP00000420201.2:p.Ser1328TyrfsTer5 | |
| ENST00000476777.6:c.4105_4106insATCT | ENSP00000417554.2:p.Ser1369TyrfsTer5 | |
| ENST00000477152.6:c.4030_4031insATCT | ENSP00000419988.2:p.Ser1344TyrfsTer5 | |
| ENST00000478531.6:c.796_797insATCT | ENSP00000420412.2:p.Ser266TyrfsTer5 | |
| ENST00000489037.2:c.4030_4031insATCT | ENSP00000420781.2:p.Ser1344TyrfsTer5 | |
| ENST00000493919.6:c.658_659insATCT | ENSP00000418819.2:p.Ser220TyrfsTer5 | |
| ENST00000494123.6:c.4108_4109insATCT | ENSP00000419103.2:p.Ser1370TyrfsTer5 | |
| ENST00000497488.2:c.3220_3221insATCT | ENSP00000418986.2:p.Ser1074TyrfsTer5 | |
| ENST00000618469.2:c.4108_4109insATCT | ENSP00000478114.2:p.Ser1370TyrfsTer5 | |
| ENST00000634433.2:c.3985_3986insATCT | ENSP00000489431.2:p.Ser1329TyrfsTer5 | |
| ENST00000644379.2:c.4108_4109insATCT | ENSP00000496570.2:p.Ser1370TyrfsTer5 | |
| ENST00000644555.2:c.658_659insATCT | ENSP00000494614.2:p.Ser220TyrfsTer5 | |
| ENST00000652672.2:c.3967_3968insATCT | ENSP00000498906.2:p.Ser1323TyrfsTer5 | |
| ENST00000484087.6:c.676_677insATCT | ENSP00000419481.2:p.Ser226TyrfsTer5 | |
| ENST00000700182.1:c.718_719insATCT | ENSP00000514849.1:p.Ser240TyrfsTer5 | |
| ENST00000357654.9:c.4108_4109insATCT MANE Select | ENSP00000350283.3:p.Ser1370TyrfsTer5 | |
| ENST00000471181.7:c.4108_4109insATCT | ENSP00000418960.2:p.Ser1370TyrfsTer5 | |
| ENST00000644379.1:c.429_430insATCT | ||
| ENST00000352993.7:c.682_683insATCT | ENSP00000312236.5:p.Ser228TyrfsTer5 | |
| ENST00000357654.7:c.4108_4109insATCT | ENSP00000350283.3:p.Ser1370TyrfsTer5 | |
| ENST00000461221.5:c.*3891_*3892insATCT | ENSP00000418548.1:n.*3891_*3892insATCT | |
| ENST00000461574.1:c.402_403insATCT | ||
| ENST00000468300.5:c.799_800insATCT | ENSP00000417148.1:p.Ser267TyrfsTer5 | |
| ENST00000471181.6:c.4108_4109insATCT | ENSP00000418960.2:p.Ser1370TyrfsTer5 | |
| ENST00000478531.5:c.796_797insATCT | ENSP00000420412.1:p.Ser266TyrfsTer5 | |
| ENST00000484087.5:c.421_422insATCT | ENSP00000419481.1:p.Ser141TyrfsTer5 | |
| ENST00000487825.5:c.424_425insATCT | ENSP00000418212.1:p.Ser142TyrfsTer5 | |
| ENST00000491747.6:c.799_800insATCT | ENSP00000420705.2:p.Ser267TyrfsTer5 | |
| ENST00000493795.5:c.3967_3968insATCT | ENSP00000418775.1:p.Ser1323TyrfsTer5 | |
| ENST00000493919.5:c.658_659insATCT | ENSP00000418819.1:p.Ser220TyrfsTer5 | |
| ENST00000586385.5:c.5-27070_5-27069insATCT | ENSP00000465818.1:n.5-27070_5-27069insATCT | |
| ENST00000591534.5:c.-43-16500_-43-16499insATCT | ENSP00000467329.1:n.-43-16500_-43-16499insATCT | |
| ENST00000591849.5:c.-99+34250_-99+34251insATCT | ENSP00000465347.1:n.-99+34250_-99+34251insATCT | |
| NM_007294.3:c.4108_4109insATCT , LRG_292t1:c.4108_4109insATCT | NP_009225.1:p.Ser1370TyrfsTer5 | |
| NM_007297.3:c.3967_3968insATCT | NP_009228.2:p.Ser1323TyrfsTer5 | |
| NM_007298.3:c.799_800insATCT | NP_009229.2:p.Ser267TyrfsTer5 | |
| NM_007299.3:c.799_800insATCT | NP_009230.2:p.Ser267TyrfsTer5 | |
| NM_007300.3:c.4108_4109insATCT | NP_009231.2:p.Ser1370TyrfsTer5 | |
| NR_027676.1:n.4244_4245insATCT | ||
| NM_007294.4:c.4108_4109insATCT MANE Select | NP_009225.1:p.Ser1370TyrfsTer5 | |
| NM_007297.4:c.3967_3968insATCT | NP_009228.2:p.Ser1323TyrfsTer5 | |
| NM_007299.4:c.799_800insATCT | NP_009230.2:p.Ser267TyrfsTer5 | |
| NM_007300.4:c.4108_4109insATCT | NP_009231.2:p.Ser1370TyrfsTer5 | |
| NR_027676.2:n.4285_4286insATCT |