LDH info

Canonical Allele Identifier: CA658824545
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 545868
ClinVar RCV Id: RCV000657457
dbSNP Id: rs1555592671

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094522_43094523del , CM000679.2:g.43094522_43094523del GRCh38
NC_000017.10:g.41246539_41246540del , CM000679.1:g.41246539_41246540del GRCh37
NC_000017.9:g.38500065_38500066del NCBI36
NG_005905.2:g.123462_123463del , LRG_292:g.123462_123463del

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1009_1010del , LRG_292t1:c.1009_1010del NP_009225.1:p.Glu337LysfsTer8
NM_007297.3:c.868_869del VV NP_009228.2:p.Glu290LysfsTer8
NM_007298.3:c.787+222_787+223del VV NP_009229.2:p.=
NM_007299.3:c.787+222_787+223del VV NP_009230.2:p.=
NM_007300.3:c.1009_1010del VV NP_009231.2:p.Glu337LysfsTer8
NR_027676.1:n.1145_1146del
NM_007294.4:c.1009_1010del VV MANE Preferred NP_009225.1:p.Glu337LysfsTer8
NM_007297.4:c.868_869del VV NP_009228.2:p.Glu290LysfsTer8
NM_007299.4:c.787+222_787+223del VV NP_009230.2:p.=
NM_007300.4:c.1009_1010del VV NP_009231.2:p.Glu337LysfsTer8
NR_027676.2:n.1186_1187del
ENST00000352993.7:c.670+1324_670+1325del ENSP00000312236.5:p.=
ENST00000354071.7:c.1009_1010del ENSP00000326002.7:p.Glu337LysfsTer8
ENST00000357654.7:c.1009_1010del ENSP00000350283.3:p.Glu337LysfsTer8
ENST00000412061.3:n.360_361del
ENST00000461221.5:c.*792_*793del ENSP00000418548.1:p.=
ENST00000468300.5:c.787+222_787+223del ENSP00000417148.1:p.=
ENST00000470026.5:c.1009_1010del ENSP00000419274.1:p.Glu337LysfsTer8
ENST00000471181.6:c.1009_1010del ENSP00000418960.2:p.Glu337LysfsTer8
ENST00000473961.5:n.606_607del
ENST00000477152.5:c.931_932del ENSP00000419988.1:p.Glu311LysfsTer8
ENST00000478531.5:c.784+222_784+223del ENSP00000420412.1:p.=
ENST00000484087.5:n.409+222_409+223del ENSP00000419481.1:p.=
ENST00000487825.5:n.412+222_412+223del ENSP00000418212.1:p.=
ENST00000491747.6:c.787+222_787+223del ENSP00000420705.2:p.=
ENST00000492859.5:c.*945_*946del ENSP00000420253.1:p.=
ENST00000493795.5:c.868_869del ENSP00000418775.1:p.Glu290LysfsTer8
ENST00000493919.5:c.646+222_646+223del ENSP00000418819.1:p.=
ENST00000494123.5:c.1009_1010del ENSP00000419103.1:p.Glu337LysfsTer8
ENST00000497488.1:c.121_122del ENSP00000418986.1:p.Glu41LysfsTer8
ENST00000586385.5:c.5-30571_5-30570del ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-20001_-43-20000del ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30749_-99+30750del ENSP00000465347.1:p.=
ENST00000634433.1:c.886_887del ENSP00000489431.1:p.Glu296LysfsTer8