Linked Data
ClinVar Variation Id:
252250
ClinVar RCV Id:
RCV000237785
dbSNP Id:
rs879255158
PubMed:
PMID:16250003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11123219dup , CM000681.2:g.11123219dup | GRCh38 |
| NC_000019.9:g.11233895dup , CM000681.1:g.11233895dup | GRCh37 |
| NC_000019.8:g.11094895dup | NCBI36 |
| NG_009060.1:g.38839dup , LRG_274:g.38839dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2444dup | ENSP00000252444.6:p.Val817GlyfsTer? | |
| ENST00000559340.2:c.*255dup | ENSP00000453696.2:n.*255dup | |
| ENST00000560467.2:c.2066dup | ENSP00000453513.2:p.Val691GlyfsTer? | |
| ENST00000558518.6:c.2186dup MANE Select | ENSP00000454071.1:p.Val731GlyfsTer? | |
| ENST00000252444.9:c.2440dup | ||
| ENST00000455727.6:c.1682dup | ENSP00000397829.2:p.Val563GlyfsTer? | |
| ENST00000535915.5:c.2063dup | ENSP00000440520.1:p.Val690GlyfsTer? | |
| ENST00000545707.5:c.1652dup | ENSP00000437639.1:p.Val553GlyfsTer? | |
| ENST00000557933.5:c.2186dup | ENSP00000453557.1:p.Val731GlyfsTer? | |
| ENST00000558013.5:c.2186dup | ENSP00000453346.1:p.Val731GlyfsTer? | |
| ENST00000558518.5:c.2186dup | ENSP00000454071.1:p.Val731GlyfsTer? | |
| NM_000527.4:c.2186dup , LRG_274t1:c.2186dup | NP_000518.1:p.Val731GlyfsTer? | |
| NM_001195798.1:c.2186dup | NP_001182727.1:p.Val731GlyfsTer? | |
| NM_001195799.1:c.2063dup | NP_001182728.1:p.Val690GlyfsTer? | |
| NM_001195800.1:c.1682dup | NP_001182729.1:p.Val563GlyfsTer? | |
| NM_001195803.1:c.1652dup | NP_001182732.1:p.Val553GlyfsTer? | |
| XM_011528010.1:c.2186dup | XP_011526312.1:p.Val731GlyfsTer? | |
| XM_011528011.1:c.1805dup | XP_011526313.1:p.Val604GlyfsTer? | |
| XR_244074.2:n.2196dup | ||
| XM_011528010.2:c.2186dup | XP_011526312.1:p.Val731GlyfsTer? | |
| XR_001753685.2:n.2520dup | ||
| XR_001753686.2:n.2163dup | ||
| NM_000527.5:c.2186dup MANE Select | NP_000518.1:p.Val731GlyfsTer? | |
| NM_001195798.2:c.2186dup | NP_001182727.1:p.Val731GlyfsTer? | |
| NM_001195799.2:c.2063dup | NP_001182728.1:p.Val690GlyfsTer? | |
| NM_001195800.2:c.1682dup | NP_001182729.1:p.Val563GlyfsTer? | |
| NM_001195803.2:c.1652dup | NP_001182732.1:p.Val553GlyfsTer? |