LDH info

Canonical Allele Identifier: CA16042162
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372068
ClinVar RCV Id: RCV000411362
dbSNP Id: rs1057517637

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43047670dup , CM000679.2:g.43047670dup GRCh38
NC_000017.10:g.41199687dup , CM000679.1:g.41199687dup GRCh37
NC_000017.9:g.38453213dup NCBI36
NG_005905.2:g.170314dup , LRG_292:g.170314dup

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.5440dup , LRG_292t1:c.5440dup NP_009225.1:p.Ala1814GlyfsTer16
NM_007297.3:c.5299dup VV NP_009228.2:p.Ala1767GlyfsTer16
NM_007298.3:c.2128dup VV NP_009229.2:p.Ala710GlyfsTer16
NM_007299.3:c.2054dup VV NP_009230.2:p.Cys685TrpfsTer21
NM_007300.3:c.5503dup VV NP_009231.2:p.Ala1835GlyfsTer16
NR_027676.1:n.5576dup
ENST00000352993.7:c.2014dup ENSP00000312236.5:p.Ala672GlyfsTer16
ENST00000357654.7:c.5440dup ENSP00000350283.3:p.Ala1814GlyfsTer16
ENST00000461221.5:c.*5223dup ENSP00000418548.1:p.=
ENST00000468300.5:c.2054dup ENSP00000417148.1:p.Cys685TrpfsTer21
ENST00000471181.6:c.5503dup ENSP00000418960.2:p.Ala1835GlyfsTer16
ENST00000491747.6:c.2128dup ENSP00000420705.2:p.Ala710GlyfsTer16
ENST00000493795.5:c.5299dup ENSP00000418775.1:p.Ala1767GlyfsTer16
ENST00000586385.5:c.370dup ENSP00000465818.1:p.Ala124GlyfsTer16
ENST00000591534.5:c.913dup ENSP00000467329.1:p.Ala305GlyfsTer16
ENST00000591849.5:c.139dup ENSP00000465347.1:p.Ala47GlyfsTer16