Linked Data
ClinVar Variation Id:
251376
ClinVar RCV Id:
RCV000237604
dbSNP Id:
rs1555803414
MyVariant Identifiers:
chr19:g.11216254_11216265dupCAAATCTGACGA (hg19)
chr19:g.11216265_11216266insCAAATCTGACGA (hg19)
chr19:g.11105578_11105589dupCAAATCTGACGA (hg38)
chr19:g.11105589_11105590insCAAATCTGACGA (hg38)
PubMed:
PMID:15241806
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11105578_11105589dup , CM000681.2:g.11105578_11105589dup | GRCh38 |
| NC_000019.9:g.11216254_11216265dup , CM000681.1:g.11216254_11216265dup | GRCh37 |
| NC_000019.8:g.11077254_11077265dup | NCBI36 |
| NG_009060.1:g.21198_21209dup , LRG_274:g.21198_21209dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.930_941dup | ENSP00000252444.6:p.Asp313_Glu314insAspLysSerAsp | |
| ENST00000559340.2:c.672_683dup | ENSP00000453696.2:p.Asp227_Glu228insAspLysSerAsp | |
| ENST00000560467.2:c.672_683dup | ENSP00000453513.2:p.Asp227_Glu228insAspLysSerAsp | |
| ENST00000558518.6:c.672_683dup MANE Select | ENSP00000454071.1:p.Asp227_Glu228insAspLysSerAsp | |
| ENST00000252444.9:c.926_937dup | ||
| ENST00000455727.6:c.314-1814_314-1803dup | ENSP00000397829.2:n.314-1814_314-1803dup | |
| ENST00000535915.5:c.549_560dup | ENSP00000440520.1:p.Asp186_Glu187insAspLysSerAsp | |
| ENST00000545707.5:c.314-987_314-976dup | ENSP00000437639.1:n.314-987_314-976dup | |
| ENST00000557933.5:c.672_683dup | ENSP00000453557.1:p.Asp227_Glu228insAspLysSerAsp | |
| ENST00000558013.5:c.672_683dup | ENSP00000453346.1:p.Asp227_Glu228insAspLysSerAsp | |
| ENST00000558518.5:c.672_683dup | ENSP00000454071.1:p.Asp227_Glu228insAspLysSerAsp | |
| ENST00000560467.1:c.272_283dup | ||
| NM_000527.4:c.672_683dup , LRG_274t1:c.672_683dup | NP_000518.1:p.Asp227_Glu228insAspLysSerAsp | |
| NM_001195798.1:c.672_683dup | NP_001182727.1:p.Asp227_Glu228insAspLysSerAsp | |
| NM_001195799.1:c.549_560dup | NP_001182728.1:p.Asp186_Glu187insAspLysSerAsp | |
| NM_001195800.1:c.314-1814_314-1803dup | NP_001182729.1:n.314-1814_314-1803dup | |
| NM_001195803.1:c.314-987_314-976dup | NP_001182732.1:n.314-987_314-976dup | |
| XM_011528010.1:c.672_683dup | XP_011526312.1:p.Asp227_Glu228insAspLysSerAsp | |
| XM_011528011.1:c.314-987_314-976dup | XP_011526313.1:n.314-987_314-976dup | |
| XR_244074.2:n.822_833dup | ||
| XM_011528010.2:c.672_683dup | XP_011526312.1:p.Asp227_Glu228insAspLysSerAsp | |
| XR_001753685.2:n.789_800dup | ||
| XR_001753686.2:n.789_800dup | ||
| NM_000527.5:c.672_683dup MANE Select | NP_000518.1:p.Asp227_Glu228insAspLysSerAsp | |
| NM_001195798.2:c.672_683dup | NP_001182727.1:p.Asp227_Glu228insAspLysSerAsp | |
| NM_001195799.2:c.549_560dup | NP_001182728.1:p.Asp186_Glu187insAspLysSerAsp | |
| NM_001195800.2:c.314-1814_314-1803dup | NP_001182729.1:n.314-1814_314-1803dup | |
| NM_001195803.2:c.314-987_314-976dup | NP_001182732.1:n.314-987_314-976dup |