Linked Data
ClinVar Variation Id:
252222
ClinVar RCV Id:
RCV000237499
dbSNP Id:
rs879255140
MyVariant Identifiers:
chr19:g.11231166_11231169dupTGCT (hg19)
chr19:g.11120490_11120493dupTGCT (hg38)
PubMed:
PMID:16389549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120490_11120493dup , CM000681.2:g.11120490_11120493dup | GRCh38 |
| NC_000019.9:g.11231166_11231169dup , CM000681.1:g.11231166_11231169dup | GRCh37 |
| NC_000019.8:g.11092166_11092169dup | NCBI36 |
| NG_009060.1:g.36110_36113dup , LRG_274:g.36110_36113dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2366_2369dup | ENSP00000252444.6:p.Arg792GlyfsTer12 | |
| ENST00000559340.2:c.*177_*180dup | ENSP00000453696.2:n.*177_*180dup | |
| ENST00000560467.2:c.1988_1991dup | ENSP00000453513.2:p.Arg666GlyfsTer12 | |
| ENST00000558518.6:c.2108_2111dup MANE Select | ENSP00000454071.1:p.Arg706GlyfsTer12 | |
| ENST00000252444.9:c.2362_2365dup | ||
| ENST00000455727.6:c.1604_1607dup | ENSP00000397829.2:p.Arg538GlyfsTer12 | |
| ENST00000535915.5:c.1985_1988dup | ENSP00000440520.1:p.Arg665GlyfsTer12 | |
| ENST00000545707.5:c.1606+257_1606+260dup | ENSP00000437639.1:n.1606+257_1606+260dup | |
| ENST00000557933.5:c.2108_2111dup | ENSP00000453557.1:p.Arg706GlyfsTer12 | |
| ENST00000558013.5:c.2108_2111dup | ENSP00000453346.1:p.Arg706GlyfsTer12 | |
| ENST00000558518.5:c.2108_2111dup | ENSP00000454071.1:p.Arg706GlyfsTer12 | |
| NM_000527.4:c.2108_2111dup , LRG_274t1:c.2108_2111dup | NP_000518.1:p.Arg706GlyfsTer12 | |
| NM_001195798.1:c.2108_2111dup | NP_001182727.1:p.Arg706GlyfsTer12 | |
| NM_001195799.1:c.1985_1988dup | NP_001182728.1:p.Arg665GlyfsTer12 | |
| NM_001195800.1:c.1604_1607dup | NP_001182729.1:p.Arg538GlyfsTer12 | |
| NM_001195803.1:c.1606+257_1606+260dup | NP_001182732.1:n.1606+257_1606+260dup | |
| XM_011528010.1:c.2108_2111dup | XP_011526312.1:p.Arg706GlyfsTer12 | |
| XM_011528011.1:c.1727_1730dup | XP_011526313.1:p.Arg579GlyfsTer12 | |
| XR_244074.2:n.2118_2121dup | ||
| XM_011528010.2:c.2108_2111dup | XP_011526312.1:p.Arg706GlyfsTer12 | |
| XR_001753685.2:n.2225_2228dup | ||
| XR_001753686.2:n.2085_2088dup | ||
| NM_000527.5:c.2108_2111dup MANE Select | NP_000518.1:p.Arg706GlyfsTer12 | |
| NM_001195798.2:c.2108_2111dup | NP_001182727.1:p.Arg706GlyfsTer12 | |
| NM_001195799.2:c.1985_1988dup | NP_001182728.1:p.Arg665GlyfsTer12 | |
| NM_001195800.2:c.1604_1607dup | NP_001182729.1:p.Arg538GlyfsTer12 | |
| NM_001195803.2:c.1606+257_1606+260dup | NP_001182732.1:n.1606+257_1606+260dup |