Linked Data
ClinVar Variation Id:
251221
ClinVar RCV Id:
RCV000237813
dbSNP Id:
rs879254523
MyVariant Identifiers:
chr19:g.11216013_11216016dupCGGT (hg19)
chr19:g.11105337_11105340dupCGGT (hg38)
PubMed:
PMID:23375686
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105337_11105340dup , CM000681.2:g.11105337_11105340dup | GRCh38 |
| NC_000019.9:g.11216013_11216016dup , CM000681.1:g.11216013_11216016dup | GRCh37 |
| NC_000019.8:g.11077013_11077016dup | NCBI36 |
| NG_009060.1:g.20957_20960dup , LRG_274:g.20957_20960dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.689_692dup | ENSP00000252444.6:p.Leu232GlyfsTer? | |
| ENST00000559340.2:c.431_434dup | ENSP00000453696.2:p.Leu146GlyfsTer? | |
| ENST00000560467.2:c.431_434dup | ENSP00000453513.2:p.Leu146GlyfsTer? | |
| ENST00000558518.6:c.431_434dup MANE Select | ENSP00000454071.1:p.Leu146GlyfsTer? | |
| ENST00000252444.9:c.685_688dup | ||
| ENST00000455727.6:c.314-2055_314-2052dup | ENSP00000397829.2:n.314-2055_314-2052dup | |
| ENST00000535915.5:c.308_311dup | ENSP00000440520.1:p.Leu105GlyfsTer? | |
| ENST00000545707.5:c.314-1228_314-1225dup | ENSP00000437639.1:n.314-1228_314-1225dup | |
| ENST00000557933.5:c.431_434dup | ENSP00000453557.1:p.Leu146GlyfsTer? | |
| ENST00000558013.5:c.431_434dup | ENSP00000453346.1:p.Leu146GlyfsTer? | |
| ENST00000558518.5:c.431_434dup | ENSP00000454071.1:p.Leu146GlyfsTer? | |
| ENST00000560467.1:c.31_34dup | ||
| NM_000527.4:c.431_434dup , LRG_274t1:c.431_434dup | NP_000518.1:p.Leu146GlyfsTer? | |
| NM_001195798.1:c.431_434dup | NP_001182727.1:p.Leu146GlyfsTer? | |
| NM_001195799.1:c.308_311dup | NP_001182728.1:p.Leu105GlyfsTer? | |
| NM_001195800.1:c.314-2055_314-2052dup | NP_001182729.1:n.314-2055_314-2052dup | |
| NM_001195803.1:c.314-1228_314-1225dup | NP_001182732.1:n.314-1228_314-1225dup | |
| XM_011528010.1:c.431_434dup | XP_011526312.1:p.Leu146GlyfsTer? | |
| XM_011528011.1:c.314-1228_314-1225dup | XP_011526313.1:n.314-1228_314-1225dup | |
| XR_244074.2:n.581_584dup | ||
| XM_011528010.2:c.431_434dup | XP_011526312.1:p.Leu146GlyfsTer? | |
| XR_001753685.2:n.548_551dup | ||
| XR_001753686.2:n.548_551dup | ||
| NM_000527.5:c.431_434dup MANE Select | NP_000518.1:p.Leu146GlyfsTer? | |
| NM_001195798.2:c.431_434dup | NP_001182727.1:p.Leu146GlyfsTer? | |
| NM_001195799.2:c.308_311dup | NP_001182728.1:p.Leu105GlyfsTer? | |
| NM_001195800.2:c.314-2055_314-2052dup | NP_001182729.1:n.314-2055_314-2052dup | |
| NM_001195803.2:c.314-1228_314-1225dup | NP_001182732.1:n.314-1228_314-1225dup |