Linked Data
ClinVar Variation Id:
226335
dbSNP Id:
rs875989908
gnomAD v4:
19-11107479-G-GCCGGGACTGGTCAGATGAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11107482_11107500dup , CM000681.2:g.11107482_11107500dup | GRCh38 |
| NC_000019.9:g.11218158_11218176dup , CM000681.1:g.11218158_11218176dup | GRCh37 |
| NC_000019.8:g.11079158_11079176dup | NCBI36 |
| NG_009060.1:g.23102_23120dup , LRG_274:g.23102_23120dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1166_1184dup | ENSP00000252444.6:p.Ile396GlyfsTer5 | |
| ENST00000559340.2:c.908_926dup | ENSP00000453696.2:p.Ile310GlyfsTer5 | |
| ENST00000560467.2:c.908_926dup | ENSP00000453513.2:p.Ile310GlyfsTer5 | |
| ENST00000558518.6:c.908_926dup MANE Select | ENSP00000454071.1:p.Ile310GlyfsTer5 | |
| ENST00000252444.9:c.1162_1180dup | ||
| ENST00000455727.6:c.404_422dup | ENSP00000397829.2:p.Ile142GlyfsTer5 | |
| ENST00000535915.5:c.785_803dup | ENSP00000440520.1:p.Ile269GlyfsTer5 | |
| ENST00000545707.5:c.527_545dup | ENSP00000437639.1:p.Ile183GlyfsTer5 | |
| ENST00000557933.5:c.908_926dup | ENSP00000453557.1:p.Ile310GlyfsTer5 | |
| ENST00000558013.5:c.908_926dup | ENSP00000453346.1:p.Ile310GlyfsTer5 | |
| ENST00000558518.5:c.908_926dup | ENSP00000454071.1:p.Ile310GlyfsTer5 | |
| ENST00000558528.1:n.423_441dup | ||
| ENST00000560467.1:c.508_526dup | ||
| NM_000527.4:c.908_926dup , LRG_274t1:c.908_926dup | NP_000518.1:p.Ile310GlyfsTer5 | |
| NM_001195798.1:c.908_926dup | NP_001182727.1:p.Ile310GlyfsTer5 | |
| NM_001195799.1:c.785_803dup | NP_001182728.1:p.Ile269GlyfsTer5 | |
| NM_001195800.1:c.404_422dup | NP_001182729.1:p.Ile142GlyfsTer5 | |
| NM_001195803.1:c.527_545dup | NP_001182732.1:p.Ile183GlyfsTer5 | |
| XM_011528010.1:c.908_926dup | XP_011526312.1:p.Ile310GlyfsTer5 | |
| XM_011528011.1:c.527_545dup | XP_011526313.1:p.Ile183GlyfsTer5 | |
| XR_244074.2:n.1058_1076dup | ||
| XM_011528010.2:c.908_926dup | XP_011526312.1:p.Ile310GlyfsTer5 | |
| XR_001753685.2:n.1025_1043dup | ||
| XR_001753686.2:n.1025_1043dup | ||
| NM_000527.5:c.908_926dup MANE Select | NP_000518.1:p.Ile310GlyfsTer5 | |
| NM_001195798.2:c.908_926dup | NP_001182727.1:p.Ile310GlyfsTer5 | |
| NM_001195799.2:c.785_803dup | NP_001182728.1:p.Ile269GlyfsTer5 | |
| NM_001195800.2:c.404_422dup | NP_001182729.1:p.Ile142GlyfsTer5 | |
| NM_001195803.2:c.527_545dup | NP_001182732.1:p.Ile183GlyfsTer5 |