Linked Data
ClinVar Variation Id:
252045
ClinVar RCV Id:
RCV000237510
dbSNP Id:
rs879255032
PubMed:
PMID:15241806
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11116968_11116978del , CM000681.2:g.11116968_11116978del | GRCh38 |
| NC_000019.9:g.11227644_11227654del , CM000681.1:g.11227644_11227654del | GRCh37 |
| NC_000019.8:g.11088644_11088654del | NCBI36 |
| NG_009060.1:g.32588_32598del , LRG_274:g.32588_32598del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2073_2083del | ENSP00000252444.6:p.Ala692LeufsTer6 | |
| ENST00000559340.2:c.1705+756_1705+766del | ENSP00000453696.2:n.1705+756_1705+766del | |
| ENST00000560467.2:c.1695_1705del | ENSP00000453513.2:p.Ala566LeufsTer6 | |
| ENST00000558518.6:c.1815_1825del MANE Select | ENSP00000454071.1:p.Ala606LeufsTer6 | |
| ENST00000252444.9:c.2069_2079del | ||
| ENST00000455727.6:c.1311_1321del | ENSP00000397829.2:p.Ala438LeufsTer6 | |
| ENST00000535915.5:c.1692_1702del | ENSP00000440520.1:p.Ala565LeufsTer6 | |
| ENST00000545707.5:c.1434_1444del | ENSP00000437639.1:p.Ala479LeufsTer6 | |
| ENST00000557933.5:c.1815_1825del | ENSP00000453557.1:p.Ala606LeufsTer6 | |
| ENST00000558013.5:c.1815_1825del | ENSP00000453346.1:p.Ala606LeufsTer6 | |
| ENST00000558518.5:c.1815_1825del | ENSP00000454071.1:p.Ala606LeufsTer6 | |
| ENST00000559340.1:c.426+756_426+766del | ||
| NM_000527.4:c.1815_1825del , LRG_274t1:c.1815_1825del | NP_000518.1:p.Ala606LeufsTer6 | |
| NM_001195798.1:c.1815_1825del | NP_001182727.1:p.Ala606LeufsTer6 | |
| NM_001195799.1:c.1692_1702del | NP_001182728.1:p.Ala565LeufsTer6 | |
| NM_001195800.1:c.1311_1321del | NP_001182729.1:p.Ala438LeufsTer6 | |
| NM_001195803.1:c.1434_1444del | NP_001182732.1:p.Ala479LeufsTer6 | |
| XM_011528010.1:c.1815_1825del | XP_011526312.1:p.Ala606LeufsTer6 | |
| XM_011528011.1:c.1434_1444del | XP_011526313.1:p.Ala479LeufsTer6 | |
| XR_244074.2:n.1855+756_1855+766del | ||
| XM_011528010.2:c.1815_1825del | XP_011526312.1:p.Ala606LeufsTer6 | |
| XR_001753685.2:n.1932_1942del | ||
| XR_001753686.2:n.1822+756_1822+766del | ||
| NM_000527.5:c.1815_1825del MANE Select | NP_000518.1:p.Ala606LeufsTer6 | |
| NM_001195798.2:c.1815_1825del | NP_001182727.1:p.Ala606LeufsTer6 | |
| NM_001195799.2:c.1692_1702del | NP_001182728.1:p.Ala565LeufsTer6 | |
| NM_001195800.2:c.1311_1321del | NP_001182729.1:p.Ala438LeufsTer6 | |
| NM_001195803.2:c.1434_1444del | NP_001182732.1:p.Ala479LeufsTer6 |