LDH info

Canonical Allele Identifier: CA10589974
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 266594
ClinVar RCV Id: RCV000256896
dbSNP Id: rs1555592683

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094524_43094587del , CM000679.2:g.43094524_43094587del GRCh38
NC_000017.10:g.41246541_41246604del , CM000679.1:g.41246541_41246604del GRCh37
NC_000017.9:g.38500067_38500130del NCBI36
NG_005905.2:g.123397_123460del , LRG_292:g.123397_123460del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.944_1007del , LRG_292t1:c.944_1007del NP_009225.1:p.Arg315LysfsTer5
NM_007297.3:c.803_866del VV NP_009228.2:p.Arg268LysfsTer5
NM_007298.3:c.787+157_787+220del VV NP_009229.2:p.=
NM_007299.3:c.787+157_787+220del VV NP_009230.2:p.=
NM_007300.3:c.944_1007del VV NP_009231.2:p.Arg315LysfsTer5
NR_027676.1:n.1080_1143del
NM_007294.4:c.944_1007del VV MANE Preferred NP_009225.1:p.Arg315LysfsTer5
NM_007297.4:c.803_866del VV NP_009228.2:p.Arg268LysfsTer5
NM_007299.4:c.787+157_787+220del VV NP_009230.2:p.=
NM_007300.4:c.944_1007del VV NP_009231.2:p.Arg315LysfsTer5
NR_027676.2:n.1121_1184del
ENST00000352993.7:c.670+1259_670+1322del ENSP00000312236.5:p.=
ENST00000354071.7:c.944_1007del ENSP00000326002.7:p.Arg315LysfsTer5
ENST00000357654.7:c.944_1007del ENSP00000350283.3:p.Arg315LysfsTer5
ENST00000412061.3:n.295_358del
ENST00000461221.5:c.*727_*790del ENSP00000418548.1:p.=
ENST00000468300.5:c.787+157_787+220del ENSP00000417148.1:p.=
ENST00000470026.5:c.944_1007del ENSP00000419274.1:p.Arg315LysfsTer5
ENST00000471181.6:c.944_1007del ENSP00000418960.2:p.Arg315LysfsTer5
ENST00000473961.5:n.541_604del
ENST00000477152.5:c.866_929del ENSP00000419988.1:p.Arg289LysfsTer5
ENST00000478531.5:c.784+157_784+220del ENSP00000420412.1:p.=
ENST00000484087.5:n.409+157_409+220del ENSP00000419481.1:p.=
ENST00000487825.5:n.412+157_412+220del ENSP00000418212.1:p.=
ENST00000491747.6:c.787+157_787+220del ENSP00000420705.2:p.=
ENST00000492859.5:c.*880_*943del ENSP00000420253.1:p.=
ENST00000493795.5:c.803_866del ENSP00000418775.1:p.Arg268LysfsTer5
ENST00000493919.5:c.646+157_646+220del ENSP00000418819.1:p.=
ENST00000494123.5:c.944_1007del ENSP00000419103.1:p.Arg315LysfsTer5
ENST00000497488.1:c.56_119del ENSP00000418986.1:p.Arg19LysfsTer5
ENST00000586385.5:c.4+30595_5-30573del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-20066_-43-20003del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30684_-99+30747del ENSP00000465347.1:p.=
ENST00000634433.1:c.821_884del ENSP00000489431.1:p.Arg274LysfsTer5