Linked Data
ClinVar Variation Id:
252125
ClinVar RCV Id:
RCV000237293
dbSNP Id:
rs1555807275
MyVariant Identifiers:
chr19:g.11230870_11230874dupGAGGA (hg19)
chr19:g.11230874_11230875insGAGGA (hg19)
chr19:g.11120194_11120198dupGAGGA (hg38)
chr19:g.11120198_11120199insGAGGA (hg38)
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120194_11120198dup , CM000681.2:g.11120194_11120198dup | GRCh38 |
| NC_000019.9:g.11230870_11230874dup , CM000681.1:g.11230870_11230874dup | GRCh37 |
| NC_000019.8:g.11091870_11091874dup | NCBI36 |
| NG_009060.1:g.35814_35818dup , LRG_274:g.35814_35818dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2206_2210dup | ENSP00000252444.6:p.Asp737GlufsTer16 | |
| ENST00000559340.2:c.*17_*21dup | ENSP00000453696.2:n.*17_*21dup | |
| ENST00000560467.2:c.1828_1832dup | ENSP00000453513.2:p.Asp611GlufsTer16 | |
| ENST00000558518.6:c.1948_1952dup MANE Select | ENSP00000454071.1:p.Asp651GlufsTer16 | |
| ENST00000252444.9:c.2202_2206dup | ||
| ENST00000455727.6:c.1444_1448dup | ENSP00000397829.2:p.Asp483GlufsTer16 | |
| ENST00000535915.5:c.1825_1829dup | ENSP00000440520.1:p.Asp610GlufsTer16 | |
| ENST00000545707.5:c.1567_1571dup | ENSP00000437639.1:p.Asp524GlufsTer30 | |
| ENST00000557933.5:c.1948_1952dup | ENSP00000453557.1:p.Asp651GlufsTer16 | |
| ENST00000558013.5:c.1948_1952dup | ENSP00000453346.1:p.Asp651GlufsTer16 | |
| ENST00000558518.5:c.1948_1952dup | ENSP00000454071.1:p.Asp651GlufsTer16 | |
| ENST00000559340.1:c.529_533dup | ||
| NM_000527.4:c.1948_1952dup , LRG_274t1:c.1948_1952dup | NP_000518.1:p.Asp651GlufsTer16 | |
| NM_001195798.1:c.1948_1952dup | NP_001182727.1:p.Asp651GlufsTer16 | |
| NM_001195799.1:c.1825_1829dup | NP_001182728.1:p.Asp610GlufsTer16 | |
| NM_001195800.1:c.1444_1448dup | NP_001182729.1:p.Asp483GlufsTer16 | |
| NM_001195803.1:c.1567_1571dup | NP_001182732.1:p.Asp524GlufsTer30 | |
| XM_011528010.1:c.1948_1952dup | XP_011526312.1:p.Asp651GlufsTer16 | |
| XM_011528011.1:c.1567_1571dup | XP_011526313.1:p.Asp524GlufsTer16 | |
| XR_244074.2:n.1958_1962dup | ||
| XM_011528010.2:c.1948_1952dup | XP_011526312.1:p.Asp651GlufsTer16 | |
| XR_001753685.2:n.2065_2069dup | ||
| XR_001753686.2:n.1925_1929dup | ||
| NM_000527.5:c.1948_1952dup MANE Select | NP_000518.1:p.Asp651GlufsTer16 | |
| NM_001195798.2:c.1948_1952dup | NP_001182727.1:p.Asp651GlufsTer16 | |
| NM_001195799.2:c.1825_1829dup | NP_001182728.1:p.Asp610GlufsTer16 | |
| NM_001195800.2:c.1444_1448dup | NP_001182729.1:p.Asp483GlufsTer16 | |
| NM_001195803.2:c.1567_1571dup | NP_001182732.1:p.Asp524GlufsTer30 |