Linked Data
ClinVar Variation Id:
785833
ClinVar RCV Id:
RCV000967796
ExAC:
19:51228571 C / CGCCCA
gnomAD v2:
19-51228571-C-CGCCCA
gnomAD v3:
19-50725314-C-CGCCCA
gnomAD v4:
19-50725314-C-CGCCCA
COSMIC:
COSM4614493
MyVariant Identifiers:
chr19:g.51228571_51228572insGCCCA (hg19)
chr19:g.50725314_50725315insGCCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50725322_50725326dup , CM000681.2:g.50725322_50725326dup | GRCh38 |
| NC_000019.9:g.51228579_51228583dup , CM000681.1:g.51228579_51228583dup | GRCh37 |
| NC_000019.8:g.55920391_55920395dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250340.9:c.827_831dup MANE Select | ENSP00000250340.3:p.Ala278ProfsTer? | |
| ENST00000250340.8:c.827_831dup | ENSP00000250340.3:p.Ala278ProfsTer? | |
| ENST00000599973.1:c.876_880dup | ENSP00000471075.1:p.Arg294ProfsTer? | |
| ENST00000617718.4:c.593_597dup | ||
| NM_002975.2:c.827_831dup | NP_002966.1:p.Ala278ProfsTer? | |
| NM_002975.3:c.827_831dup MANE Select | NP_002966.1:p.Ala278ProfsTer? |