LDH info

Canonical Allele Identifier: CA000735
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 125486
ClinVar RCV Id: RCV000111547
dbSNP Id: rs80357665

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094429_43094430insG , CM000679.2:g.43094429_43094430insG GRCh38
NC_000017.10:g.41246446_41246447insG , CM000679.1:g.41246446_41246447insG GRCh37
NC_000017.9:g.38499972_38499973insG NCBI36
NG_005905.2:g.123554_123555insC , LRG_292:g.123554_123555insC

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1101_1102insC , LRG_292t1:c.1101_1102insC NP_009225.1:p.Glu368ArgfsTer10
NM_007297.3:c.960_961insC VV NP_009228.2:p.Glu321ArgfsTer10
NM_007298.3:c.787+314_787+315insC VV NP_009229.2:p.=
NM_007299.3:c.787+314_787+315insC VV NP_009230.2:p.=
NM_007300.3:c.1101_1102insC VV NP_009231.2:p.Glu368ArgfsTer10
NR_027676.1:n.1237_1238insC
NM_007294.4:c.1101_1102insC VV MANE Preferred NP_009225.1:p.Glu368ArgfsTer10
NM_007297.4:c.960_961insC VV NP_009228.2:p.Glu321ArgfsTer10
NM_007299.4:c.787+314_787+315insC VV NP_009230.2:p.=
NM_007300.4:c.1101_1102insC VV NP_009231.2:p.Glu368ArgfsTer10
NR_027676.2:n.1278_1279insC
ENST00000352993.7:c.670+1416_670+1417insC ENSP00000312236.5:p.=
ENST00000354071.7:c.1101_1102insC ENSP00000326002.7:p.Glu368ArgfsTer10
ENST00000357654.7:c.1101_1102insC ENSP00000350283.3:p.Glu368ArgfsTer10
ENST00000412061.3:n.452_453insC
ENST00000461221.5:c.*884_*885insC ENSP00000418548.1:p.=
ENST00000468300.5:c.787+314_787+315insC ENSP00000417148.1:p.=
ENST00000470026.5:c.1101_1102insC ENSP00000419274.1:p.Glu368ArgfsTer10
ENST00000471181.6:c.1101_1102insC ENSP00000418960.2:p.Glu368ArgfsTer10
ENST00000473961.5:n.698_699insC
ENST00000477152.5:c.1023_1024insC ENSP00000419988.1:p.Glu342ArgfsTer10
ENST00000478531.5:c.784+314_784+315insC ENSP00000420412.1:p.=
ENST00000484087.5:n.409+314_409+315insC ENSP00000419481.1:p.=
ENST00000487825.5:n.412+314_412+315insC ENSP00000418212.1:p.=
ENST00000491747.6:c.787+314_787+315insC ENSP00000420705.2:p.=
ENST00000492859.5:c.*1037_*1038insC ENSP00000420253.1:p.=
ENST00000493795.5:c.960_961insC ENSP00000418775.1:p.Glu321ArgfsTer10
ENST00000493919.5:c.646+314_646+315insC ENSP00000418819.1:p.=
ENST00000494123.5:c.1101_1102insC ENSP00000419103.1:p.Glu368ArgfsTer10
ENST00000497488.1:c.213_214insC ENSP00000418986.1:p.Glu72ArgfsTer10
ENST00000586385.5:c.5-30479_5-30478insC ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-19909_-43-19908insC ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30841_-99+30842insC ENSP00000465347.1:p.=
ENST00000634433.1:c.978_979insC ENSP00000489431.1:p.Glu327ArgfsTer10