Linked Data
ClinVar Variation Id:
252285
ClinVar RCV Id:
RCV000237915
dbSNP Id:
rs879255177
PubMed:
PMID:16250003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11128013_11128014insTA , CM000681.2:g.11128013_11128014insTA | GRCh38 |
| NC_000019.9:g.11238689_11238690insTA , CM000681.1:g.11238689_11238690insTA | GRCh37 |
| NC_000019.8:g.11099689_11099690insTA | NCBI36 |
| NG_009060.1:g.43633_43634insTA , LRG_274:g.43633_43634insTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2575_2576insTA | ENSP00000252444.6:p.Gly859ValfsTer16 | |
| ENST00000559340.2:c.*386_*387insTA | ENSP00000453696.2:n.*386_*387insTA | |
| ENST00000560467.2:c.2197_2198insTA | ENSP00000453513.2:p.Gly733ValfsTer16 | |
| ENST00000558518.6:c.2317_2318insTA MANE Select | ENSP00000454071.1:p.Gly773ValfsTer16 | |
| ENST00000252444.9:c.2571_2572insTA | ||
| ENST00000455727.6:c.1813_1814insTA | ENSP00000397829.2:p.Gly605ValfsTer16 | |
| ENST00000535915.5:c.2194_2195insTA | ENSP00000440520.1:p.Gly732ValfsTer16 | |
| ENST00000545707.5:c.1783_1784insTA | ENSP00000437639.1:p.Gly595ValfsTer16 | |
| ENST00000557933.5:c.2317_2318insTA | ENSP00000453557.1:p.Gly773ValfsTer16 | |
| ENST00000558013.5:c.2317_2318insTA | ENSP00000453346.1:p.Gly773ValfsTer16 | |
| ENST00000558518.5:c.2317_2318insTA | ENSP00000454071.1:p.Gly773ValfsTer16 | |
| ENST00000560628.1:n.108+359_108+360insTA | ||
| NM_000527.4:c.2317_2318insTA , LRG_274t1:c.2317_2318insTA | NP_000518.1:p.Gly773ValfsTer16 | |
| NM_001195798.1:c.2317_2318insTA | NP_001182727.1:p.Gly773ValfsTer16 | |
| NM_001195799.1:c.2194_2195insTA | NP_001182728.1:p.Gly732ValfsTer16 | |
| NM_001195800.1:c.1813_1814insTA | NP_001182729.1:p.Gly605ValfsTer16 | |
| NM_001195803.1:c.1783_1784insTA | NP_001182732.1:p.Gly595ValfsTer16 | |
| XM_011528010.1:c.2312-1500_2312-1499insTA | XP_011526312.1:n.2312-1500_2312-1499insTA | |
| XM_011528011.1:c.1936_1937insTA | XP_011526313.1:p.Gly646ValfsTer16 | |
| XR_244074.2:n.2327_2328insTA | ||
| XM_011528010.2:c.2312-1500_2312-1499insTA | XP_011526312.1:n.2312-1500_2312-1499insTA | |
| XR_001753685.2:n.2651_2652insTA | ||
| XR_001753686.2:n.2294_2295insTA | ||
| NM_000527.5:c.2317_2318insTA MANE Select | NP_000518.1:p.Gly773ValfsTer16 | |
| NM_001195798.2:c.2317_2318insTA | NP_001182727.1:p.Gly773ValfsTer16 | |
| NM_001195799.2:c.2194_2195insTA | NP_001182728.1:p.Gly732ValfsTer16 | |
| NM_001195800.2:c.1813_1814insTA | NP_001182729.1:p.Gly605ValfsTer16 | |
| NM_001195803.2:c.1783_1784insTA | NP_001182732.1:p.Gly595ValfsTer16 |