Linked Data
ClinVar Variation Id:
548293
ClinVar RCV Id:
RCV000661291
dbSNP Id:
rs1555586517
MyVariant Identifiers:
chr17:g.41243477_41243478insTCAA (hg19)
chr17:g.43091460_43091461insTCAA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091462_43091463insAATC , CM000679.2:g.43091462_43091463insAATC | GRCh38 |
| NC_000017.10:g.41243479_41243480insAATC , CM000679.1:g.41243479_41243480insAATC | GRCh37 |
| NC_000017.9:g.38497005_38497006insAATC | NCBI36 |
| NG_005905.2:g.126523_126524insTTGA , LRG_292:g.126523_126524insTTGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.4134_4135insTTGA | ||
| ENST00000461574.2:c.4070_4071insTTGA | ENSP00000417241.2:p.Glu1357AspfsTer2 | |
| ENST00000470026.6:c.4070_4071insTTGA | ENSP00000419274.2:p.Glu1357AspfsTer2 | |
| ENST00000473961.6:c.3944_3945insTTGA | ENSP00000420201.2:p.Glu1315AspfsTer2 | |
| ENST00000476777.6:c.4067_4068insTTGA | ENSP00000417554.2:p.Glu1356AspfsTer2 | |
| ENST00000477152.6:c.3992_3993insTTGA | ENSP00000419988.2:p.Glu1331AspfsTer2 | |
| ENST00000478531.6:c.785-429_785-428insTTGA | ENSP00000420412.2:n.785-429_785-428insTTGA | |
| ENST00000489037.2:c.3992_3993insTTGA | ENSP00000420781.2:p.Glu1331AspfsTer2 | |
| ENST00000493919.6:c.647-429_647-428insTTGA | ENSP00000418819.2:n.647-429_647-428insTTGA | |
| ENST00000494123.6:c.4070_4071insTTGA | ENSP00000419103.2:p.Glu1357AspfsTer2 | |
| ENST00000497488.2:c.3182_3183insTTGA | ENSP00000418986.2:p.Glu1061AspfsTer2 | |
| ENST00000618469.2:c.4070_4071insTTGA | ENSP00000478114.2:p.Glu1357AspfsTer2 | |
| ENST00000634433.2:c.3947_3948insTTGA | ENSP00000489431.2:p.Glu1316AspfsTer2 | |
| ENST00000644379.2:c.4070_4071insTTGA | ENSP00000496570.2:p.Glu1357AspfsTer2 | |
| ENST00000644555.2:c.647-429_647-428insTTGA | ENSP00000494614.2:n.647-429_647-428insTTGA | |
| ENST00000652672.2:c.3929_3930insTTGA | ENSP00000498906.2:p.Glu1310AspfsTer2 | |
| ENST00000484087.6:c.665-429_665-428insTTGA | ENSP00000419481.2:n.665-429_665-428insTTGA | |
| ENST00000700182.1:c.707-429_707-428insTTGA | ENSP00000514849.1:n.707-429_707-428insTTGA | |
| ENST00000357654.9:c.4070_4071insTTGA MANE Select | ENSP00000350283.3:p.Glu1357AspfsTer2 | |
| ENST00000471181.7:c.4070_4071insTTGA | ENSP00000418960.2:p.Glu1357AspfsTer2 | |
| ENST00000644379.1:c.391_392insTTGA | ||
| ENST00000352993.7:c.671-429_671-428insTTGA | ENSP00000312236.5:n.671-429_671-428insTTGA | |
| ENST00000354071.7:c.4070_4071insTTGA | ENSP00000326002.7:p.Glu1357AspfsTer2 | |
| ENST00000357654.7:c.4070_4071insTTGA | ENSP00000350283.3:p.Glu1357AspfsTer2 | |
| ENST00000461221.5:c.*3853_*3854insTTGA | ENSP00000418548.1:n.*3853_*3854insTTGA | |
| ENST00000461574.1:c.364_365insTTGA | ||
| ENST00000468300.5:c.788-429_788-428insTTGA | ENSP00000417148.1:n.788-429_788-428insTTGA | |
| ENST00000471181.6:c.4070_4071insTTGA | ENSP00000418960.2:p.Glu1357AspfsTer2 | |
| ENST00000478531.5:c.785-429_785-428insTTGA | ENSP00000420412.1:n.785-429_785-428insTTGA | |
| ENST00000484087.5:c.410-429_410-428insTTGA | ENSP00000419481.1:n.410-429_410-428insTTGA | |
| ENST00000487825.5:c.413-429_413-428insTTGA | ENSP00000418212.1:n.413-429_413-428insTTGA | |
| ENST00000491747.6:c.788-429_788-428insTTGA | ENSP00000420705.2:n.788-429_788-428insTTGA | |
| ENST00000493795.5:c.3929_3930insTTGA | ENSP00000418775.1:p.Glu1310AspfsTer2 | |
| ENST00000493919.5:c.647-429_647-428insTTGA | ENSP00000418819.1:n.647-429_647-428insTTGA | |
| ENST00000586385.5:c.5-27510_5-27509insTTGA | ENSP00000465818.1:n.5-27510_5-27509insTTGA | |
| ENST00000591534.5:c.-43-16940_-43-16939insTTGA | ENSP00000467329.1:n.-43-16940_-43-16939insTTGA | |
| ENST00000591849.5:c.-99+33810_-99+33811insTTGA | ENSP00000465347.1:n.-99+33810_-99+33811insTTGA | |
| NM_007294.3:c.4070_4071insTTGA , LRG_292t1:c.4070_4071insTTGA | NP_009225.1:p.Glu1357AspfsTer2 | |
| NM_007297.3:c.3929_3930insTTGA | NP_009228.2:p.Glu1310AspfsTer2 | |
| NM_007298.3:c.788-429_788-428insTTGA | NP_009229.2:n.788-429_788-428insTTGA | |
| NM_007299.3:c.788-429_788-428insTTGA | NP_009230.2:n.788-429_788-428insTTGA | |
| NM_007300.3:c.4070_4071insTTGA | NP_009231.2:p.Glu1357AspfsTer2 | |
| NR_027676.1:n.4206_4207insTTGA | ||
| NM_007294.4:c.4070_4071insTTGA MANE Select | NP_009225.1:p.Glu1357AspfsTer2 | |
| NM_007297.4:c.3929_3930insTTGA | NP_009228.2:p.Glu1310AspfsTer2 | |
| NM_007299.4:c.788-429_788-428insTTGA | NP_009230.2:n.788-429_788-428insTTGA | |
| NM_007300.4:c.4070_4071insTTGA | NP_009231.2:p.Glu1357AspfsTer2 | |
| NR_027676.2:n.4247_4248insTTGA |