Linked Data
ClinVar Variation Id:
4222
ClinVar RCV Id:
RCV000004443
dbSNP Id:
rs587777823
MyVariant Identifiers:
chr19:g.47259094_47259097dupACCT (hg19)
chr19:g.46755837_46755840dupACCT (hg38)
PubMed:
PMID:11741828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46755837_46755840dup , CM000681.2:g.46755837_46755840dup | GRCh38 |
| NC_000019.9:g.47259094_47259097dup , CM000681.1:g.47259094_47259097dup | GRCh37 |
| NC_000019.8:g.51950934_51950937dup | NCBI36 |
| NG_008898.2:g.14792_14795dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318584.10:c.387_390dup MANE Select | ENSP00000326570.4:p.Asp131ThrfsTer2 | |
| ENST00000318584.9:c.387_390dup | ENSP00000326570.4:p.Asp131ThrfsTer2 | |
| ENST00000391909.7:c.387_390dup | ENSP00000375776.2:p.Asp131ThrfsTer2 | |
| ENST00000593902.1:c.387_390dup | ENSP00000470901.1:p.Asp131ThrfsTer2 | |
| ENST00000594467.5:c.-43_-40dup | ENSP00000471971.1:n.-43_-40dup | |
| ENST00000597339.5:n.247-5996_247-5993dup | ||
| ENST00000600646.5:n.247+7172_247+7175dup | ||
| ENST00000601299.5:c.387_390dup | ENSP00000470103.1:p.Asp131ThrfsTer2 | |
| NM_001039885.2:c.387_390dup | NP_001034974.1:p.Asp131ThrfsTer2 | |
| NM_024301.4:c.387_390dup | NP_077277.1:p.Asp131ThrfsTer2 | |
| XM_005259247.1:c.387_390dup | XP_005259304.1:p.Asp131ThrfsTer2 | |
| XM_005259248.1:c.387_390dup | XP_005259305.1:p.Asp131ThrfsTer2 | |
| XM_005259249.3:c.387_390dup | XP_005259306.1:p.Asp131ThrfsTer2 | |
| XM_005259250.3:c.387_390dup | XP_005259307.1:p.Asp131ThrfsTer2 | |
| XM_011527301.1:c.387_390dup | XP_011525603.1:p.Asp131ThrfsTer2 | |
| XM_011527302.1:c.387_390dup | XP_011525604.1:p.Asp131ThrfsTer2 | |
| XM_011527303.1:c.387_390dup | XP_011525605.1:p.Asp131ThrfsTer2 | |
| XM_011527304.1:c.387_390dup | XP_011525606.1:p.Asp131ThrfsTer2 | |
| XM_011527305.1:c.387_390dup | XP_011525607.1:p.Asp131ThrfsTer2 | |
| XM_011527306.1:c.387_390dup | XP_011525608.1:p.Asp131ThrfsTer2 | |
| XM_011527307.1:c.387_390dup | XP_011525609.1:p.Asp131ThrfsTer2 | |
| XM_005259247.2:c.387_390dup | XP_005259304.1:p.Asp131ThrfsTer2 | |
| XM_005259248.2:c.387_390dup | XP_005259305.1:p.Asp131ThrfsTer2 | |
| XM_005259249.4:c.387_390dup | XP_005259306.1:p.Asp131ThrfsTer2 | |
| XM_011527306.2:c.387_390dup | XP_011525608.1:p.Asp131ThrfsTer2 | |
| XM_017027297.2:c.387_390dup | XP_016882786.1:p.Asp131ThrfsTer2 | |
| XM_024451707.1:c.387_390dup | XP_024307475.1:p.Asp131ThrfsTer2 | |
| NM_001039885.3:c.387_390dup | NP_001034974.1:p.Asp131ThrfsTer2 | |
| NM_024301.5:c.387_390dup MANE Select | NP_077277.1:p.Asp131ThrfsTer2 |