Linked Data
ClinVar Variation Id:
548282
ClinVar RCV Id:
RCV000661262
dbSNP Id:
rs1555586240
MyVariant Identifiers:
chr17:g.41243033_41243034insAGAT (hg19)
chr17:g.43091016_43091017insAGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091016_43091017insAGAT , CM000679.2:g.43091016_43091017insAGAT | GRCh38 |
| NC_000017.10:g.41243033_41243034insAGAT , CM000679.1:g.41243033_41243034insAGAT | GRCh37 |
| NC_000017.9:g.38496559_38496560insAGAT | NCBI36 |
| NG_005905.2:g.126967_126968insATCT , LRG_292:g.126967_126968insATCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4112_4113insATCT | ENSP00000417241.2:p.Cys1372SerfsTer3 | |
| ENST00000470026.6:c.4112_4113insATCT | ENSP00000419274.2:p.Cys1372SerfsTer3 | |
| ENST00000473961.6:c.3986_3987insATCT | ENSP00000420201.2:p.Cys1330SerfsTer3 | |
| ENST00000476777.6:c.4109_4110insATCT | ENSP00000417554.2:p.Cys1371SerfsTer3 | |
| ENST00000477152.6:c.4034_4035insATCT | ENSP00000419988.2:p.Cys1346SerfsTer3 | |
| ENST00000478531.6:c.800_801insATCT | ENSP00000420412.2:p.Cys268SerfsTer3 | |
| ENST00000489037.2:c.4034_4035insATCT | ENSP00000420781.2:p.Cys1346SerfsTer3 | |
| ENST00000493919.6:c.662_663insATCT | ENSP00000418819.2:p.Cys222SerfsTer3 | |
| ENST00000494123.6:c.4112_4113insATCT | ENSP00000419103.2:p.Cys1372SerfsTer3 | |
| ENST00000497488.2:c.3224_3225insATCT | ENSP00000418986.2:p.Cys1076SerfsTer3 | |
| ENST00000618469.2:c.4112_4113insATCT | ENSP00000478114.2:p.Cys1372SerfsTer3 | |
| ENST00000634433.2:c.3989_3990insATCT | ENSP00000489431.2:p.Cys1331SerfsTer3 | |
| ENST00000644379.2:c.4112_4113insATCT | ENSP00000496570.2:p.Cys1372SerfsTer3 | |
| ENST00000644555.2:c.662_663insATCT | ENSP00000494614.2:p.Cys222SerfsTer3 | |
| ENST00000652672.2:c.3971_3972insATCT | ENSP00000498906.2:p.Cys1325SerfsTer3 | |
| ENST00000484087.6:c.680_681insATCT | ENSP00000419481.2:p.Cys228SerfsTer3 | |
| ENST00000700182.1:c.722_723insATCT | ENSP00000514849.1:p.Cys242SerfsTer3 | |
| ENST00000357654.9:c.4112_4113insATCT MANE Select | ENSP00000350283.3:p.Cys1372SerfsTer3 | |
| ENST00000471181.7:c.4112_4113insATCT | ENSP00000418960.2:p.Cys1372SerfsTer3 | |
| ENST00000644379.1:c.433_434insATCT | ||
| ENST00000352993.7:c.686_687insATCT | ENSP00000312236.5:p.Cys230SerfsTer3 | |
| ENST00000357654.7:c.4112_4113insATCT | ENSP00000350283.3:p.Cys1372SerfsTer3 | |
| ENST00000461221.5:c.*3895_*3896insATCT | ENSP00000418548.1:n.*3895_*3896insATCT | |
| ENST00000461574.1:c.406_407insATCT | ||
| ENST00000468300.5:c.803_804insATCT | ENSP00000417148.1:p.Cys269SerfsTer3 | |
| ENST00000471181.6:c.4112_4113insATCT | ENSP00000418960.2:p.Cys1372SerfsTer3 | |
| ENST00000478531.5:c.800_801insATCT | ENSP00000420412.1:p.Cys268SerfsTer3 | |
| ENST00000484087.5:c.425_426insATCT | ENSP00000419481.1:p.Cys143SerfsTer3 | |
| ENST00000487825.5:c.428_429insATCT | ENSP00000418212.1:p.Cys144SerfsTer3 | |
| ENST00000491747.6:c.803_804insATCT | ENSP00000420705.2:p.Cys269SerfsTer3 | |
| ENST00000493795.5:c.3971_3972insATCT | ENSP00000418775.1:p.Cys1325SerfsTer3 | |
| ENST00000493919.5:c.662_663insATCT | ENSP00000418819.1:p.Cys222SerfsTer3 | |
| ENST00000586385.5:c.5-27066_5-27065insATCT | ENSP00000465818.1:n.5-27066_5-27065insATCT | |
| ENST00000591534.5:c.-43-16496_-43-16495insATCT | ENSP00000467329.1:n.-43-16496_-43-16495insATCT | |
| ENST00000591849.5:c.-99+34254_-99+34255insATCT | ENSP00000465347.1:n.-99+34254_-99+34255insATCT | |
| NM_007294.3:c.4112_4113insATCT , LRG_292t1:c.4112_4113insATCT | NP_009225.1:p.Cys1372SerfsTer3 | |
| NM_007297.3:c.3971_3972insATCT | NP_009228.2:p.Cys1325SerfsTer3 | |
| NM_007298.3:c.803_804insATCT | NP_009229.2:p.Cys269SerfsTer3 | |
| NM_007299.3:c.803_804insATCT | NP_009230.2:p.Cys269SerfsTer3 | |
| NM_007300.3:c.4112_4113insATCT | NP_009231.2:p.Cys1372SerfsTer3 | |
| NR_027676.1:n.4248_4249insATCT | ||
| NM_007294.4:c.4112_4113insATCT MANE Select | NP_009225.1:p.Cys1372SerfsTer3 | |
| NM_007297.4:c.3971_3972insATCT | NP_009228.2:p.Cys1325SerfsTer3 | |
| NM_007299.4:c.803_804insATCT | NP_009230.2:p.Cys269SerfsTer3 | |
| NM_007300.4:c.4112_4113insATCT | NP_009231.2:p.Cys1372SerfsTer3 | |
| NR_027676.2:n.4289_4290insATCT |