LDH info

Canonical Allele Identifier: CA000681
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 54102
dbSNP Id: rs80357569

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094521dup , CM000679.2:g.43094521dup GRCh38
NC_000017.10:g.41246538dup , CM000679.1:g.41246538dup GRCh37
NC_000017.9:g.38500064dup NCBI36
NG_005905.2:g.123469dup , LRG_292:g.123469dup

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1016dup , LRG_292t1:c.1016dup NP_009225.1:p.Val340GlyfsTer6
NM_007297.3:c.875dup VV NP_009228.2:p.Val293GlyfsTer6
NM_007298.3:c.787+229dup VV NP_009229.2:p.=
NM_007299.3:c.787+229dup VV NP_009230.2:p.=
NM_007300.3:c.1016dup VV NP_009231.2:p.Val340GlyfsTer6
NR_027676.1:n.1152dup
NM_007294.4:c.1016dup VV MANE Preferred NP_009225.1:p.Val340GlyfsTer6
NM_007297.4:c.875dup VV NP_009228.2:p.Val293GlyfsTer6
NM_007299.4:c.787+229dup VV NP_009230.2:p.=
NM_007300.4:c.1016dup VV NP_009231.2:p.Val340GlyfsTer6
NR_027676.2:n.1193dup
ENST00000352993.7:c.670+1331dup ENSP00000312236.5:p.=
ENST00000354071.7:c.1016dup ENSP00000326002.7:p.Val340GlyfsTer6
ENST00000357654.7:c.1016dup ENSP00000350283.3:p.Val340GlyfsTer6
ENST00000412061.3:n.367dup
ENST00000461221.5:c.*799dup ENSP00000418548.1:p.=
ENST00000468300.5:c.787+229dup ENSP00000417148.1:p.=
ENST00000470026.5:c.1016dup ENSP00000419274.1:p.Val340GlyfsTer6
ENST00000471181.6:c.1016dup ENSP00000418960.2:p.Val340GlyfsTer6
ENST00000473961.5:n.613dup
ENST00000477152.5:c.938dup ENSP00000419988.1:p.Val314GlyfsTer6
ENST00000478531.5:c.784+229dup ENSP00000420412.1:p.=
ENST00000484087.5:n.409+229dup ENSP00000419481.1:p.=
ENST00000487825.5:n.412+229dup ENSP00000418212.1:p.=
ENST00000491747.6:c.787+229dup ENSP00000420705.2:p.=
ENST00000492859.5:c.*952dup ENSP00000420253.1:p.=
ENST00000493795.5:c.875dup ENSP00000418775.1:p.Val293GlyfsTer6
ENST00000493919.5:c.646+229dup ENSP00000418819.1:p.=
ENST00000494123.5:c.1016dup ENSP00000419103.1:p.Val340GlyfsTer6
ENST00000497488.1:c.128dup ENSP00000418986.1:p.Val44GlyfsTer6
ENST00000586385.5:c.5-30564dup ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-19994dup ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30756dup ENSP00000465347.1:p.=
ENST00000634433.1:c.893dup ENSP00000489431.1:p.Val299GlyfsTer6