Linked Data
ClinVar Variation Id:
251389
ClinVar RCV Id:
RCV000237411
dbSNP Id:
rs1555803427
MyVariant Identifiers:
chr19:g.11216263_11216264insTGAG (hg19)
chr19:g.11105587_11105588insTGAG (hg38)
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105587_11105588insTGAG , CM000681.2:g.11105587_11105588insTGAG | GRCh38 |
| NC_000019.9:g.11216263_11216264insTGAG , CM000681.1:g.11216263_11216264insTGAG | GRCh37 |
| NC_000019.8:g.11077263_11077264insTGAG | NCBI36 |
| NG_009060.1:g.21207_21208insTGAG , LRG_274:g.21207_21208insTGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.939_940insTGAG | ENSP00000252444.6:p.Glu314Ter | |
| ENST00000559340.2:c.681_682insTGAG | ENSP00000453696.2:p.Glu228Ter | |
| ENST00000560467.2:c.681_682insTGAG | ENSP00000453513.2:p.Glu228Ter | |
| ENST00000558518.6:c.681_682insTGAG MANE Select | ENSP00000454071.1:p.Glu228Ter | |
| ENST00000252444.9:c.935_936insTGAG | ||
| ENST00000455727.6:c.314-1805_314-1804insTGAG | ENSP00000397829.2:n.314-1805_314-1804insTGAG | |
| ENST00000535915.5:c.558_559insTGAG | ENSP00000440520.1:p.Glu187Ter | |
| ENST00000545707.5:c.314-978_314-977insTGAG | ENSP00000437639.1:n.314-978_314-977insTGAG | |
| ENST00000557933.5:c.681_682insTGAG | ENSP00000453557.1:p.Glu228Ter | |
| ENST00000558013.5:c.681_682insTGAG | ENSP00000453346.1:p.Glu228Ter | |
| ENST00000558518.5:c.681_682insTGAG | ENSP00000454071.1:p.Glu228Ter | |
| ENST00000560467.1:c.281_282insTGAG | ||
| NM_000527.4:c.681_682insTGAG , LRG_274t1:c.681_682insTGAG | NP_000518.1:p.Glu228Ter | |
| NM_001195798.1:c.681_682insTGAG | NP_001182727.1:p.Glu228Ter | |
| NM_001195799.1:c.558_559insTGAG | NP_001182728.1:p.Glu187Ter | |
| NM_001195800.1:c.314-1805_314-1804insTGAG | NP_001182729.1:n.314-1805_314-1804insTGAG | |
| NM_001195803.1:c.314-978_314-977insTGAG | NP_001182732.1:n.314-978_314-977insTGAG | |
| XM_011528010.1:c.681_682insTGAG | XP_011526312.1:p.Glu228Ter | |
| XM_011528011.1:c.314-978_314-977insTGAG | XP_011526313.1:n.314-978_314-977insTGAG | |
| XR_244074.2:n.831_832insTGAG | ||
| XM_011528010.2:c.681_682insTGAG | XP_011526312.1:p.Glu228Ter | |
| XR_001753685.2:n.798_799insTGAG | ||
| XR_001753686.2:n.798_799insTGAG | ||
| NM_000527.5:c.681_682insTGAG MANE Select | NP_000518.1:p.Glu228Ter | |
| NM_001195798.2:c.681_682insTGAG | NP_001182727.1:p.Glu228Ter | |
| NM_001195799.2:c.558_559insTGAG | NP_001182728.1:p.Glu187Ter | |
| NM_001195800.2:c.314-1805_314-1804insTGAG | NP_001182729.1:n.314-1805_314-1804insTGAG | |
| NM_001195803.2:c.314-978_314-977insTGAG | NP_001182732.1:n.314-978_314-977insTGAG |