LDH info

Canonical Allele Identifier: CA10580680
Gene: BRCA1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 231841
ClinVar RCV Id: RCV000223080
dbSNP Id: rs876659396

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094425_43094426insGA , CM000679.2:g.43094425_43094426insGA GRCh38
NC_000017.10:g.41246442_41246443insGA , CM000679.1:g.41246442_41246443insGA GRCh37
NC_000017.9:g.38499968_38499969insGA NCBI36
NG_005905.2:g.123558_123559insTC , LRG_292:g.123558_123559insTC

Transcript Alleles

HGVS Amino-acid change
NM_007294.3:c.1105_1106insTC , LRG_292t1:c.1105_1106insTC NP_009225.1:p.Asp369ValfsTer6
NM_007297.3:c.964_965insTC VV NP_009228.2:p.Asp322ValfsTer6
NM_007298.3:c.787+318_787+319insTC VV NP_009229.2:p.=
NM_007299.3:c.787+318_787+319insTC VV NP_009230.2:p.=
NM_007300.3:c.1105_1106insTC VV NP_009231.2:p.Asp369ValfsTer6
NR_027676.1:n.1241_1242insTC
NM_007294.4:c.1105_1106insTC VV MANE Preferred NP_009225.1:p.Asp369ValfsTer6
NM_007297.4:c.964_965insTC VV NP_009228.2:p.Asp322ValfsTer6
NM_007299.4:c.787+318_787+319insTC VV NP_009230.2:p.=
NM_007300.4:c.1105_1106insTC VV NP_009231.2:p.Asp369ValfsTer6
NR_027676.2:n.1282_1283insTC
ENST00000352993.7:c.670+1420_670+1421insTC ENSP00000312236.5:p.=
ENST00000354071.7:c.1105_1106insTC ENSP00000326002.7:p.Asp369ValfsTer6
ENST00000357654.7:c.1105_1106insTC ENSP00000350283.3:p.Asp369ValfsTer6
ENST00000412061.3:n.456_457insTC
ENST00000461221.5:c.*888_*889insTC ENSP00000418548.1:p.=
ENST00000468300.5:c.787+318_787+319insTC ENSP00000417148.1:p.=
ENST00000470026.5:c.1105_1106insTC ENSP00000419274.1:p.Asp369ValfsTer6
ENST00000471181.6:c.1105_1106insTC ENSP00000418960.2:p.Asp369ValfsTer6
ENST00000473961.5:n.702_703insTC
ENST00000477152.5:c.1027_1028insTC ENSP00000419988.1:p.Asp343ValfsTer6
ENST00000478531.5:c.784+318_784+319insTC ENSP00000420412.1:p.=
ENST00000484087.5:n.409+318_409+319insTC ENSP00000419481.1:p.=
ENST00000487825.5:n.412+318_412+319insTC ENSP00000418212.1:p.=
ENST00000491747.6:c.787+318_787+319insTC ENSP00000420705.2:p.=
ENST00000492859.5:c.*1041_*1042insTC ENSP00000420253.1:p.=
ENST00000493795.5:c.964_965insTC ENSP00000418775.1:p.Asp322ValfsTer6
ENST00000493919.5:c.646+318_646+319insTC ENSP00000418819.1:p.=
ENST00000494123.5:c.1105_1106insTC ENSP00000419103.1:p.Asp369ValfsTer6
ENST00000497488.1:c.217_218insTC ENSP00000418986.1:p.Asp73ValfsTer6
ENST00000586385.5:c.5-30475_5-30474insTC ENSP00000465818.1:p.=
ENST00000591534.5:c.-43-19905_-43-19904insTC ENSP00000467329.1:p.=
ENST00000591849.5:c.-99+30845_-99+30846insTC ENSP00000465347.1:p.=
ENST00000634433.1:c.982_983insTC ENSP00000489431.1:p.Asp328ValfsTer6