Linked Data
ClinVar Variation Id:
251663
ClinVar RCV Id:
RCV000238107
dbSNP Id:
rs879254790
MyVariant Identifiers:
chr19:g.11222228_11222233delinsGT (hg19)
chr19:g.11111552_11111557delinsGT (hg38)
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111552_11111557delinsGT , CM000681.2:g.11111552_11111557delinsGT | GRCh38 |
| NC_000019.9:g.11222228_11222233delinsGT , CM000681.1:g.11222228_11222233delinsGT | GRCh37 |
| NC_000019.8:g.11083228_11083233delinsGT | NCBI36 |
| NG_009060.1:g.27172_27177delinsGT , LRG_274:g.27172_27177delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1357_1362delinsGT | ENSP00000252444.6:p.Leu453ValfsTer2 | |
| ENST00000559340.2:c.1099_1104delinsGT | ENSP00000453696.2:p.Leu367ValfsTer2 | |
| ENST00000560467.2:c.979_984delinsGT | ENSP00000453513.2:p.Leu327ValfsTer2 | |
| ENST00000558518.6:c.1099_1104delinsGT MANE Select | ENSP00000454071.1:p.Leu367ValfsTer2 | |
| ENST00000252444.9:c.1353_1358delinsGT | ||
| ENST00000455727.6:c.595_600delinsGT | ENSP00000397829.2:p.Leu199ValfsTer2 | |
| ENST00000535915.5:c.976_981delinsGT | ENSP00000440520.1:p.Leu326ValfsTer2 | |
| ENST00000545707.5:c.718_723delinsGT | ENSP00000437639.1:p.Leu240ValfsTer2 | |
| ENST00000557933.5:c.1099_1104delinsGT | ENSP00000453557.1:p.Leu367ValfsTer2 | |
| ENST00000558013.5:c.1099_1104delinsGT | ENSP00000453346.1:p.Leu367ValfsTer2 | |
| ENST00000558518.5:c.1099_1104delinsGT | ENSP00000454071.1:p.Leu367ValfsTer2 | |
| ENST00000560173.1:n.98_103delinsGT | ||
| ENST00000560467.1:c.579_584delinsGT | ||
| NM_000527.4:c.1099_1104delinsGT , LRG_274t1:c.1099_1104delinsGT | NP_000518.1:p.Leu367ValfsTer2 | |
| NM_001195798.1:c.1099_1104delinsGT | NP_001182727.1:p.Leu367ValfsTer2 | |
| NM_001195799.1:c.976_981delinsGT | NP_001182728.1:p.Leu326ValfsTer2 | |
| NM_001195800.1:c.595_600delinsGT | NP_001182729.1:p.Leu199ValfsTer2 | |
| NM_001195803.1:c.718_723delinsGT | NP_001182732.1:p.Leu240ValfsTer2 | |
| XM_011528010.1:c.1099_1104delinsGT | XP_011526312.1:p.Leu367ValfsTer2 | |
| XM_011528011.1:c.718_723delinsGT | XP_011526313.1:p.Leu240ValfsTer2 | |
| XR_244074.2:n.1249_1254delinsGT | ||
| XM_011528010.2:c.1099_1104delinsGT | XP_011526312.1:p.Leu367ValfsTer2 | |
| XR_001753685.2:n.1216_1221delinsGT | ||
| XR_001753686.2:n.1216_1221delinsGT | ||
| NM_000527.5:c.1099_1104delinsGT MANE Select | NP_000518.1:p.Leu367ValfsTer2 | |
| NM_001195798.2:c.1099_1104delinsGT | NP_001182727.1:p.Leu367ValfsTer2 | |
| NM_001195799.2:c.976_981delinsGT | NP_001182728.1:p.Leu326ValfsTer2 | |
| NM_001195800.2:c.595_600delinsGT | NP_001182729.1:p.Leu199ValfsTer2 | |
| NM_001195803.2:c.718_723delinsGT | NP_001182732.1:p.Leu240ValfsTer2 |