Linked Data
ClinVar Variation Id:
125679
ClinVar RCV Id:
RCV000112261
dbSNP Id:
rs80357935
MyVariant Identifiers:
chr17:g.41243034_41243035insAGAT (hg19)
chr17:g.43091017_43091018insAGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091017_43091018insAGAT , CM000679.2:g.43091017_43091018insAGAT | GRCh38 |
| NC_000017.10:g.41243034_41243035insAGAT , CM000679.1:g.41243034_41243035insAGAT | GRCh37 |
| NC_000017.9:g.38496560_38496561insAGAT | NCBI36 |
| NG_005905.2:g.126966_126967insATCT , LRG_292:g.126966_126967insATCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4111_4112insATCT | ENSP00000417241.2:p.Gly1371AspfsTer4 | |
| ENST00000470026.6:c.4111_4112insATCT | ENSP00000419274.2:p.Gly1371AspfsTer4 | |
| ENST00000473961.6:c.3985_3986insATCT | ENSP00000420201.2:p.Gly1329AspfsTer4 | |
| ENST00000476777.6:c.4108_4109insATCT | ENSP00000417554.2:p.Gly1370AspfsTer4 | |
| ENST00000477152.6:c.4033_4034insATCT | ENSP00000419988.2:p.Gly1345AspfsTer4 | |
| ENST00000478531.6:c.799_800insATCT | ENSP00000420412.2:p.Gly267AspfsTer4 | |
| ENST00000489037.2:c.4033_4034insATCT | ENSP00000420781.2:p.Gly1345AspfsTer4 | |
| ENST00000493919.6:c.661_662insATCT | ENSP00000418819.2:p.Gly221AspfsTer4 | |
| ENST00000494123.6:c.4111_4112insATCT | ENSP00000419103.2:p.Gly1371AspfsTer4 | |
| ENST00000497488.2:c.3223_3224insATCT | ENSP00000418986.2:p.Gly1075AspfsTer4 | |
| ENST00000618469.2:c.4111_4112insATCT | ENSP00000478114.2:p.Gly1371AspfsTer4 | |
| ENST00000634433.2:c.3988_3989insATCT | ENSP00000489431.2:p.Gly1330AspfsTer4 | |
| ENST00000644379.2:c.4111_4112insATCT | ENSP00000496570.2:p.Gly1371AspfsTer4 | |
| ENST00000644555.2:c.661_662insATCT | ENSP00000494614.2:p.Gly221AspfsTer4 | |
| ENST00000652672.2:c.3970_3971insATCT | ENSP00000498906.2:p.Gly1324AspfsTer4 | |
| ENST00000484087.6:c.679_680insATCT | ENSP00000419481.2:p.Gly227AspfsTer4 | |
| ENST00000700182.1:c.721_722insATCT | ENSP00000514849.1:p.Gly241AspfsTer4 | |
| ENST00000357654.9:c.4111_4112insATCT MANE Select | ENSP00000350283.3:p.Gly1371AspfsTer4 | |
| ENST00000471181.7:c.4111_4112insATCT | ENSP00000418960.2:p.Gly1371AspfsTer4 | |
| ENST00000644379.1:c.432_433insATCT | ||
| ENST00000352993.7:c.685_686insATCT | ENSP00000312236.5:p.Gly229AspfsTer4 | |
| ENST00000357654.7:c.4111_4112insATCT | ENSP00000350283.3:p.Gly1371AspfsTer4 | |
| ENST00000461221.5:c.*3894_*3895insATCT | ENSP00000418548.1:n.*3894_*3895insATCT | |
| ENST00000461574.1:c.405_406insATCT | ||
| ENST00000468300.5:c.802_803insATCT | ENSP00000417148.1:p.Gly268AspfsTer4 | |
| ENST00000471181.6:c.4111_4112insATCT | ENSP00000418960.2:p.Gly1371AspfsTer4 | |
| ENST00000478531.5:c.799_800insATCT | ENSP00000420412.1:p.Gly267AspfsTer4 | |
| ENST00000484087.5:c.424_425insATCT | ENSP00000419481.1:p.Gly142AspfsTer4 | |
| ENST00000487825.5:c.427_428insATCT | ENSP00000418212.1:p.Gly143AspfsTer4 | |
| ENST00000491747.6:c.802_803insATCT | ENSP00000420705.2:p.Gly268AspfsTer4 | |
| ENST00000493795.5:c.3970_3971insATCT | ENSP00000418775.1:p.Gly1324AspfsTer4 | |
| ENST00000493919.5:c.661_662insATCT | ENSP00000418819.1:p.Gly221AspfsTer4 | |
| ENST00000586385.5:c.5-27067_5-27066insATCT | ENSP00000465818.1:n.5-27067_5-27066insATCT | |
| ENST00000591534.5:c.-43-16497_-43-16496insATCT | ENSP00000467329.1:n.-43-16497_-43-16496insATCT | |
| ENST00000591849.5:c.-99+34253_-99+34254insATCT | ENSP00000465347.1:n.-99+34253_-99+34254insATCT | |
| NM_007294.3:c.4111_4112insATCT , LRG_292t1:c.4111_4112insATCT | NP_009225.1:p.Gly1371AspfsTer4 | |
| NM_007297.3:c.3970_3971insATCT | NP_009228.2:p.Gly1324AspfsTer4 | |
| NM_007298.3:c.802_803insATCT | NP_009229.2:p.Gly268AspfsTer4 | |
| NM_007299.3:c.802_803insATCT | NP_009230.2:p.Gly268AspfsTer4 | |
| NM_007300.3:c.4111_4112insATCT | NP_009231.2:p.Gly1371AspfsTer4 | |
| NR_027676.1:n.4247_4248insATCT | ||
| NM_007294.4:c.4111_4112insATCT MANE Select | NP_009225.1:p.Gly1371AspfsTer4 | |
| NM_007297.4:c.3970_3971insATCT | NP_009228.2:p.Gly1324AspfsTer4 | |
| NM_007299.4:c.802_803insATCT | NP_009230.2:p.Gly268AspfsTer4 | |
| NM_007300.4:c.4111_4112insATCT | NP_009231.2:p.Gly1371AspfsTer4 | |
| NR_027676.2:n.4288_4289insATCT |