Linked Data
ClinVar Variation Id:
252005
ClinVar RCV Id:
RCV000238291
dbSNP Id:
rs879255002
MyVariant Identifiers:
chr19:g.11227564_11227565insTCG (hg19)
chr19:g.11116888_11116889insTCG (hg38)
PubMed:
PMID:1301956
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116888_11116889insTCG , CM000681.2:g.11116888_11116889insTCG | GRCh38 |
| NC_000019.9:g.11227564_11227565insTCG , CM000681.1:g.11227564_11227565insTCG | GRCh37 |
| NC_000019.8:g.11088564_11088565insTCG | NCBI36 |
| NG_009060.1:g.32508_32509insTCG , LRG_274:g.32508_32509insTCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1993_1994insTCG | ENSP00000252444.6:p.Val664_Asp665insVal | |
| ENST00000559340.2:c.1705+676_1705+677insTCG | ENSP00000453696.2:n.1705+676_1705+677insTCG | |
| ENST00000560467.2:c.1615_1616insTCG | ENSP00000453513.2:p.Val538_Asp539insVal | |
| ENST00000558518.6:c.1735_1736insTCG MANE Select | ENSP00000454071.1:p.Val578_Asp579insVal | |
| ENST00000252444.9:c.1989_1990insTCG | ||
| ENST00000455727.6:c.1231_1232insTCG | ENSP00000397829.2:p.Val410_Asp411insVal | |
| ENST00000535915.5:c.1612_1613insTCG | ENSP00000440520.1:p.Val537_Asp538insVal | |
| ENST00000545707.5:c.1354_1355insTCG | ENSP00000437639.1:p.Val451_Asp452insVal | |
| ENST00000557933.5:c.1735_1736insTCG | ENSP00000453557.1:p.Val578_Asp579insVal | |
| ENST00000558013.5:c.1735_1736insTCG | ENSP00000453346.1:p.Val578_Asp579insVal | |
| ENST00000558518.5:c.1735_1736insTCG | ENSP00000454071.1:p.Val578_Asp579insVal | |
| ENST00000559340.1:c.426+676_426+677insTCG | ||
| NM_000527.4:c.1735_1736insTCG , LRG_274t1:c.1735_1736insTCG | NP_000518.1:p.Val578_Asp579insVal | |
| NM_001195798.1:c.1735_1736insTCG | NP_001182727.1:p.Val578_Asp579insVal | |
| NM_001195799.1:c.1612_1613insTCG | NP_001182728.1:p.Val537_Asp538insVal | |
| NM_001195800.1:c.1231_1232insTCG | NP_001182729.1:p.Val410_Asp411insVal | |
| NM_001195803.1:c.1354_1355insTCG | NP_001182732.1:p.Val451_Asp452insVal | |
| XM_011528010.1:c.1735_1736insTCG | XP_011526312.1:p.Val578_Asp579insVal | |
| XM_011528011.1:c.1354_1355insTCG | XP_011526313.1:p.Val451_Asp452insVal | |
| XR_244074.2:n.1855+676_1855+677insTCG | ||
| XM_011528010.2:c.1735_1736insTCG | XP_011526312.1:p.Val578_Asp579insVal | |
| XR_001753685.2:n.1852_1853insTCG | ||
| XR_001753686.2:n.1822+676_1822+677insTCG | ||
| NM_000527.5:c.1735_1736insTCG MANE Select | NP_000518.1:p.Val578_Asp579insVal | |
| NM_001195798.2:c.1735_1736insTCG | NP_001182727.1:p.Val578_Asp579insVal | |
| NM_001195799.2:c.1612_1613insTCG | NP_001182728.1:p.Val537_Asp538insVal | |
| NM_001195800.2:c.1231_1232insTCG | NP_001182729.1:p.Val410_Asp411insVal | |
| NM_001195803.2:c.1354_1355insTCG | NP_001182732.1:p.Val451_Asp452insVal |