LDH info

Canonical Allele Identifier: CA000680
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 54100
ClinVar RCV Id: RCV000111528
dbSNP Id: rs67284603

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094523dup , CM000679.2:g.43094523dup GRCh38
NC_000017.10:g.41246540dup , CM000679.1:g.41246540dup GRCh37
NC_000017.9:g.38500066dup NCBI36
NG_005905.2:g.123461dup , LRG_292:g.123461dup

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1008dup , LRG_292t1:c.1008dup NP_009225.1:p.Glu337ArgfsTer9
NM_007297.3:c.867dup VV NP_009228.2:p.Glu290ArgfsTer9
NM_007298.3:c.787+221dup VV NP_009229.2:p.=
NM_007299.3:c.787+221dup VV NP_009230.2:p.=
NM_007300.3:c.1008dup VV NP_009231.2:p.Glu337ArgfsTer9
NR_027676.1:n.1144dup
NM_007294.4:c.1008dup VV MANE Preferred NP_009225.1:p.Glu337ArgfsTer9
NM_007297.4:c.867dup VV NP_009228.2:p.Glu290ArgfsTer9
NM_007299.4:c.787+221dup VV NP_009230.2:p.=
NM_007300.4:c.1008dup VV NP_009231.2:p.Glu337ArgfsTer9
NR_027676.2:n.1185dup
ENST00000352993.7:c.670+1323dup ENSP00000312236.5:p.=
ENST00000354071.7:c.1008dup ENSP00000326002.7:p.Glu337ArgfsTer9
ENST00000357654.7:c.1008dup ENSP00000350283.3:p.Glu337ArgfsTer9
ENST00000412061.3:n.359dup
ENST00000461221.5:c.*791dup ENSP00000418548.1:p.=
ENST00000468300.5:c.787+221dup ENSP00000417148.1:p.=
ENST00000470026.5:c.1008dup ENSP00000419274.1:p.Glu337ArgfsTer9
ENST00000471181.6:c.1008dup ENSP00000418960.2:p.Glu337ArgfsTer9
ENST00000473961.5:n.605dup
ENST00000477152.5:c.930dup ENSP00000419988.1:p.Glu311ArgfsTer9
ENST00000478531.5:c.784+221dup ENSP00000420412.1:p.=
ENST00000484087.5:n.409+221dup ENSP00000419481.1:p.=
ENST00000487825.5:n.412+221dup ENSP00000418212.1:p.=
ENST00000491747.6:c.787+221dup ENSP00000420705.2:p.=
ENST00000492859.5:c.*944dup ENSP00000420253.1:p.=
ENST00000493795.5:c.867dup ENSP00000418775.1:p.Glu290ArgfsTer9
ENST00000493919.5:c.646+221dup ENSP00000418819.1:p.=
ENST00000494123.5:c.1008dup ENSP00000419103.1:p.Glu337ArgfsTer9
ENST00000497488.1:c.120dup ENSP00000418986.1:p.Glu41ArgfsTer9
ENST00000586385.5:c.5-30572dup ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-20002dup ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30748dup ENSP00000465347.1:p.=
ENST00000634433.1:c.885dup ENSP00000489431.1:p.Glu296ArgfsTer9