Linked Data
ClinVar Variation Id:
226369
ClinVar RCV Id:
RCV000211678
dbSNP Id:
rs875989927
MyVariant Identifiers:
chr19:g.11227544_11227548delinsA (hg19)
chr19:g.11116868_11116872delinsA (hg38)
PubMed:
PMID:10208479
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116868_11116872delinsA , CM000681.2:g.11116868_11116872delinsA | GRCh38 |
| NC_000019.9:g.11227544_11227548delinsA , CM000681.1:g.11227544_11227548delinsA | GRCh37 |
| NC_000019.8:g.11088544_11088548delinsA | NCBI36 |
| NG_009060.1:g.32488_32492delinsA , LRG_274:g.32488_32492delinsA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252444.10:c.1973_1977delinsA | ENSP00000252444.6:p.Ser658AsnfsTer? | |
| ENST00000559340.2:c.1705+656_1705+660delinsA | ENSP00000453696.2:n.1705+656_1705+660deli... | |
| ENST00000560467.2:c.1595_1599delinsA | ENSP00000453513.2:p.Ser532AsnfsTer? | |
| ENST00000558518.6:c.1715_1719delinsA MANE Select | ENSP00000454071.1:p.Ser572AsnfsTer? | |
| ENST00000252444.9:c.1969_1973delinsA | ||
| ENST00000455727.6:c.1211_1215delinsA | ENSP00000397829.2:p.Ser404AsnfsTer? | |
| ENST00000535915.5:c.1592_1596delinsA | ENSP00000440520.1:p.Ser531AsnfsTer? | |
| ENST00000545707.5:c.1334_1338delinsA | ENSP00000437639.1:p.Ser445AsnfsTer? | |
| ENST00000557933.5:c.1715_1719delinsA | ENSP00000453557.1:p.Ser572AsnfsTer? | |
| ENST00000558013.5:c.1715_1719delinsA | ENSP00000453346.1:p.Ser572AsnfsTer? | |
| ENST00000558518.5:c.1715_1719delinsA | ENSP00000454071.1:p.Ser572AsnfsTer? | |
| ENST00000559340.1:c.426+656_426+660delinsA | ||
| NM_000527.4:c.1715_1719delinsA , LRG_274t1:c.1715_1719delinsA | NP_000518.1:p.Ser572AsnfsTer? | |
| NM_001195798.1:c.1715_1719delinsA | NP_001182727.1:p.Ser572AsnfsTer? | |
| NM_001195799.1:c.1592_1596delinsA | NP_001182728.1:p.Ser531AsnfsTer? | |
| NM_001195800.1:c.1211_1215delinsA | NP_001182729.1:p.Ser404AsnfsTer? | |
| NM_001195803.1:c.1334_1338delinsA | NP_001182732.1:p.Ser445AsnfsTer? | |
| XM_011528010.1:c.1715_1719delinsA | XP_011526312.1:p.Ser572AsnfsTer? | |
| XM_011528011.1:c.1334_1338delinsA | XP_011526313.1:p.Ser445AsnfsTer? | |
| XR_244074.2:n.1855+656_1855+660delinsA | ||
| XM_011528010.2:c.1715_1719delinsA | XP_011526312.1:p.Ser572AsnfsTer? | |
| XR_001753685.2:n.1832_1836delinsA | ||
| XR_001753686.2:n.1822+656_1822+660delinsA | ||
| NM_000527.5:c.1715_1719delinsA MANE Select | NP_000518.1:p.Ser572AsnfsTer? | |
| NM_001195798.2:c.1715_1719delinsA | NP_001182727.1:p.Ser572AsnfsTer? | |
| NM_001195799.2:c.1592_1596delinsA | NP_001182728.1:p.Ser531AsnfsTer? | |
| NM_001195800.2:c.1211_1215delinsA | NP_001182729.1:p.Ser404AsnfsTer? | |
| NM_001195803.2:c.1334_1338delinsA | NP_001182732.1:p.Ser445AsnfsTer? |