Linked Data
ClinVar Variation Id:
251086
ClinVar RCV Id:
RCV000237309
dbSNP Id:
rs879254443
PubMed:
PMID:26020417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11102709dup , CM000681.2:g.11102709dup | GRCh38 |
| NC_000019.9:g.11213385dup , CM000681.1:g.11213385dup | GRCh37 |
| NC_000019.8:g.11074385dup | NCBI36 |
| NG_009060.1:g.18329dup , LRG_274:g.18329dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.494dup | ENSP00000252444.6:p.Asn166GlnfsTer? | |
| ENST00000559340.2:c.236dup | ENSP00000453696.2:p.Asn80GlnfsTer? | |
| ENST00000560467.2:c.236dup | ENSP00000453513.2:p.Asn80GlnfsTer? | |
| ENST00000558518.6:c.236dup MANE Select | ENSP00000454071.1:p.Asn80GlnfsTer? | |
| ENST00000252444.9:c.490dup | ||
| ENST00000455727.6:c.236dup | ENSP00000397829.2:p.Asn80GlnfsTer? | |
| ENST00000535915.5:c.190+2364dup | ENSP00000440520.1:n.190+2364dup | |
| ENST00000545707.5:c.236dup | ENSP00000437639.1:p.Asn80GlnfsTer? | |
| ENST00000557933.5:c.236dup | ENSP00000453557.1:p.Asn80GlnfsTer? | |
| ENST00000557958.1:n.322dup | ||
| ENST00000558013.5:c.236dup | ENSP00000453346.1:p.Asn80GlnfsTer? | |
| ENST00000558518.5:c.236dup | ENSP00000454071.1:p.Asn80GlnfsTer? | |
| NM_000527.4:c.236dup , LRG_274t1:c.236dup | NP_000518.1:p.Asn80GlnfsTer? | |
| NM_001195798.1:c.236dup | NP_001182727.1:p.Asn80GlnfsTer? | |
| NM_001195799.1:c.190+2364dup | NP_001182728.1:n.190+2364dup | |
| NM_001195800.1:c.236dup | NP_001182729.1:p.Asn80GlnfsTer? | |
| NM_001195803.1:c.236dup | NP_001182732.1:p.Asn80GlnfsTer? | |
| XM_011528010.1:c.236dup | XP_011526312.1:p.Asn80GlnfsTer? | |
| XM_011528011.1:c.236dup | XP_011526313.1:p.Asn80GlnfsTer? | |
| XR_244074.2:n.386dup | ||
| XM_011528010.2:c.236dup | XP_011526312.1:p.Asn80GlnfsTer? | |
| XR_001753685.2:n.353dup | ||
| XR_001753686.2:n.353dup | ||
| NM_000527.5:c.236dup MANE Select | NP_000518.1:p.Asn80GlnfsTer? | |
| NM_001195798.2:c.236dup | NP_001182727.1:p.Asn80GlnfsTer? | |
| NM_001195799.2:c.190+2364dup | NP_001182728.1:n.190+2364dup | |
| NM_001195800.2:c.236dup | NP_001182729.1:p.Asn80GlnfsTer? | |
| NM_001195803.2:c.236dup | NP_001182732.1:p.Asn80GlnfsTer? |