Linked Data
ClinVar Variation Id:
251675
ClinVar RCV Id:
RCV000237308
dbSNP Id:
rs879254798
MyVariant Identifiers:
chr19:g.11222249_11222250delinsTC (hg19)
chr19:g.11111573_11111574delinsTC (hg38)
PubMed:
PMID:16542394
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11111573_11111574delinsTC , CM000681.2:g.11111573_11111574delinsTC | GRCh38 |
| NC_000019.9:g.11222249_11222250delinsTC , CM000681.1:g.11222249_11222250delinsTC | GRCh37 |
| NC_000019.8:g.11083249_11083250delinsTC | NCBI36 |
| NG_009060.1:g.27193_27194delinsTC , LRG_274:g.27193_27194delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1378_1379delinsTC | ENSP00000252444.6:p.Gly460Ser | |
| ENST00000559340.2:c.1120_1121delinsTC | ENSP00000453696.2:p.Gly374Ser | |
| ENST00000560467.2:c.1000_1001delinsTC | ENSP00000453513.2:p.Gly334Ser | |
| ENST00000558518.6:c.1120_1121delinsTC MANE Select | ENSP00000454071.1:p.Gly374Ser | |
| ENST00000252444.9:c.1374_1375delinsTC | ||
| ENST00000455727.6:c.616_617delinsTC | ENSP00000397829.2:p.Gly206Ser | |
| ENST00000535915.5:c.997_998delinsTC | ENSP00000440520.1:p.Gly333Ser | |
| ENST00000545707.5:c.739_740delinsTC | ENSP00000437639.1:p.Gly247Ser | |
| ENST00000557933.5:c.1120_1121delinsTC | ENSP00000453557.1:p.Gly374Ser | |
| ENST00000558013.5:c.1120_1121delinsTC | ENSP00000453346.1:p.Gly374Ser | |
| ENST00000558518.5:c.1120_1121delinsTC | ENSP00000454071.1:p.Gly374Ser | |
| ENST00000560173.1:n.119_120delinsTC | ||
| ENST00000560467.1:c.600_601delinsTC | ||
| NM_000527.4:c.1120_1121delinsTC , LRG_274t1:c.1120_1121delinsTC | NP_000518.1:p.Gly374Ser | |
| NM_001195798.1:c.1120_1121delinsTC | NP_001182727.1:p.Gly374Ser | |
| NM_001195799.1:c.997_998delinsTC | NP_001182728.1:p.Gly333Ser | |
| NM_001195800.1:c.616_617delinsTC | NP_001182729.1:p.Gly206Ser | |
| NM_001195803.1:c.739_740delinsTC | NP_001182732.1:p.Gly247Ser | |
| XM_011528010.1:c.1120_1121delinsTC | XP_011526312.1:p.Gly374Ser | |
| XM_011528011.1:c.739_740delinsTC | XP_011526313.1:p.Gly247Ser | |
| XR_244074.2:n.1270_1271delinsTC | ||
| XM_011528010.2:c.1120_1121delinsTC | XP_011526312.1:p.Gly374Ser | |
| XR_001753685.2:n.1237_1238delinsTC | ||
| XR_001753686.2:n.1237_1238delinsTC | ||
| NM_000527.5:c.1120_1121delinsTC MANE Select | NP_000518.1:p.Gly374Ser | |
| NM_001195798.2:c.1120_1121delinsTC | NP_001182727.1:p.Gly374Ser | |
| NM_001195799.2:c.997_998delinsTC | NP_001182728.1:p.Gly333Ser | |
| NM_001195800.2:c.616_617delinsTC | NP_001182729.1:p.Gly206Ser | |
| NM_001195803.2:c.739_740delinsTC | NP_001182732.1:p.Gly247Ser |