Linked Data
ClinVar Variation Id:
251359
ClinVar RCV Id:
RCV000237278
dbSNP Id:
rs879254358
MyVariant Identifiers:
chr19:g.11216239_11216243dupCCCCG (hg19)
chr19:g.11105563_11105567dupCCCCG (hg38)
PubMed:
PMID:11139254
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105563_11105567dup , CM000681.2:g.11105563_11105567dup | GRCh38 |
| NC_000019.9:g.11216239_11216243dup , CM000681.1:g.11216239_11216243dup | GRCh37 |
| NC_000019.8:g.11077239_11077243dup | NCBI36 |
| NG_009060.1:g.21183_21187dup , LRG_274:g.21183_21187dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.915_919dup | ENSP00000252444.6:p.Asp307AlafsTer? | |
| ENST00000559340.2:c.657_661dup | ENSP00000453696.2:p.Asp221AlafsTer? | |
| ENST00000560467.2:c.657_661dup | ENSP00000453513.2:p.Asp221AlafsTer? | |
| ENST00000558518.6:c.657_661dup MANE Select | ENSP00000454071.1:p.Asp221AlafsTer? | |
| ENST00000252444.9:c.911_915dup | ||
| ENST00000455727.6:c.314-1829_314-1825dup | ENSP00000397829.2:n.314-1829_314-1825dup | |
| ENST00000535915.5:c.534_538dup | ENSP00000440520.1:p.Asp180AlafsTer? | |
| ENST00000545707.5:c.314-1002_314-998dup | ENSP00000437639.1:n.314-1002_314-998dup | |
| ENST00000557933.5:c.657_661dup | ENSP00000453557.1:p.Asp221AlafsTer? | |
| ENST00000558013.5:c.657_661dup | ENSP00000453346.1:p.Asp221AlafsTer? | |
| ENST00000558518.5:c.657_661dup | ENSP00000454071.1:p.Asp221AlafsTer? | |
| ENST00000560467.1:c.257_261dup | ||
| NM_000527.4:c.657_661dup , LRG_274t1:c.657_661dup | NP_000518.1:p.Asp221AlafsTer? | |
| NM_001195798.1:c.657_661dup | NP_001182727.1:p.Asp221AlafsTer? | |
| NM_001195799.1:c.534_538dup | NP_001182728.1:p.Asp180AlafsTer? | |
| NM_001195800.1:c.314-1829_314-1825dup | NP_001182729.1:n.314-1829_314-1825dup | |
| NM_001195803.1:c.314-1002_314-998dup | NP_001182732.1:n.314-1002_314-998dup | |
| XM_011528010.1:c.657_661dup | XP_011526312.1:p.Asp221AlafsTer? | |
| XM_011528011.1:c.314-1002_314-998dup | XP_011526313.1:n.314-1002_314-998dup | |
| XR_244074.2:n.807_811dup | ||
| XM_011528010.2:c.657_661dup | XP_011526312.1:p.Asp221AlafsTer? | |
| XR_001753685.2:n.774_778dup | ||
| XR_001753686.2:n.774_778dup | ||
| NM_000527.5:c.657_661dup MANE Select | NP_000518.1:p.Asp221AlafsTer? | |
| NM_001195798.2:c.657_661dup | NP_001182727.1:p.Asp221AlafsTer? | |
| NM_001195799.2:c.534_538dup | NP_001182728.1:p.Asp180AlafsTer? | |
| NM_001195800.2:c.314-1829_314-1825dup | NP_001182729.1:n.314-1829_314-1825dup | |
| NM_001195803.2:c.314-1002_314-998dup | NP_001182732.1:n.314-1002_314-998dup |