Canonical Allele Identifier: CA10580680

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 231841
• ClinVar RCV Id: RCV000223080
• dbSNP Id: rs876659396
• MyVariant Identifiers: chr17:g.41246442_41246443insGA (hg19) ; chr17:g.43094425_43094426insGA (hg38)

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
ENST00000354071.8:n.1169_1170insTC
ENST00000461574.2:c.1105_1106insTC	ENSP00000417241.2:p.Asp369ValfsTer6
ENST00000470026.6:c.1105_1106insTC	ENSP00000419274.2:p.Asp369ValfsTer6
ENST00000473961.6:c.979_980insTC	ENSP00000420201.2:p.Asp327ValfsTer6
ENST00000476777.6:c.1102_1103insTC	ENSP00000417554.2:p.Asp368ValfsTer6
ENST00000477152.6:c.1027_1028insTC	ENSP00000419988.2:p.Asp343ValfsTer6
ENST00000478531.6:c.784+318_784+319insTC	ENSP00000420412.2:n.784+318_784+319insTC
ENST00000489037.2:c.1027_1028insTC	ENSP00000420781.2:p.Asp343ValfsTer6
ENST00000493919.6:c.646+318_646+319insTC	ENSP00000418819.2:n.646+318_646+319insTC
ENST00000494123.6:c.1105_1106insTC	ENSP00000419103.2:p.Asp369ValfsTer6
ENST00000497488.2:c.217_218insTC	ENSP00000418986.2:p.Asp73ValfsTer6
ENST00000618469.2:c.1105_1106insTC	ENSP00000478114.2:p.Asp369ValfsTer6
ENST00000634433.2:c.982_983insTC	ENSP00000489431.2:p.Asp328ValfsTer6
ENST00000644379.2:c.1105_1106insTC	ENSP00000496570.2:p.Asp369ValfsTer6
ENST00000644555.2:c.646+318_646+319insTC	ENSP00000494614.2:n.646+318_646+319insTC
ENST00000652672.2:c.964_965insTC	ENSP00000498906.2:p.Asp322ValfsTer6
ENST00000484087.6:c.664+318_664+319insTC	ENSP00000419481.2:n.664+318_664+319insTC
ENST00000700182.1:c.706+318_706+319insTC	ENSP00000514849.1:n.706+318_706+319insTC
ENST00000700183.1:c.*1113_*1114insTC	ENSP00000514850.1:n.*1113_*1114insTC
ENST00000357654.9:c.1105_1106insTC MANE Select	ENSP00000350283.3:p.Asp369ValfsTer6
ENST00000471181.7:c.1105_1106insTC	ENSP00000418960.2:p.Asp369ValfsTer6
ENST00000652672.1:c.964_965insTC	ENSP00000498906.1:p.Asp322ValfsTer6
ENST00000352993.7:c.670+1420_670+1421insTC	ENSP00000312236.5:n.670+1420_670+1421insT...
ENST00000354071.7:c.1105_1106insTC	ENSP00000326002.7:p.Asp369ValfsTer6
ENST00000357654.7:c.1105_1106insTC	ENSP00000350283.3:p.Asp369ValfsTer6
ENST00000412061.3:c.456_457insTC
ENST00000461221.5:c.*888_*889insTC	ENSP00000418548.1:n.*888_*889insTC
ENST00000468300.5:c.787+318_787+319insTC	ENSP00000417148.1:n.787+318_787+319insTC
ENST00000470026.5:c.1105_1106insTC	ENSP00000419274.1:p.Asp369ValfsTer6
ENST00000471181.6:c.1105_1106insTC	ENSP00000418960.2:p.Asp369ValfsTer6
ENST00000473961.5:c.702_703insTC
ENST00000477152.5:c.1027_1028insTC	ENSP00000419988.1:p.Asp343ValfsTer6
ENST00000478531.5:c.784+318_784+319insTC	ENSP00000420412.1:n.784+318_784+319insTC
ENST00000484087.5:c.409+318_409+319insTC	ENSP00000419481.1:n.409+318_409+319insTC
ENST00000487825.5:c.412+318_412+319insTC	ENSP00000418212.1:n.412+318_412+319insTC
ENST00000491747.6:c.787+318_787+319insTC	ENSP00000420705.2:n.787+318_787+319insTC
ENST00000492859.5:c.*1041_*1042insTC	ENSP00000420253.1:n.*1041_*1042insTC
ENST00000493795.5:c.964_965insTC	ENSP00000418775.1:p.Asp322ValfsTer6
ENST00000493919.5:c.646+318_646+319insTC	ENSP00000418819.1:n.646+318_646+319insTC
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:n.5-30475_5-30474insTC
ENST00000591534.5:c.-43-19905_-43-19904insTC	ENSP00000467329.1:n.-43-19905_-43-19904in...
ENST00000591849.5:c.-99+30845_-99+30846insTC	ENSP00000465347.1:n.-99+30845_-99+30846in...
ENST00000634433.1:c.982_983insTC	ENSP00000489431.1:p.Asp328ValfsTer6
NM_007294.3:c.1105_1106insTC , LRG_292t1:c.1105_1106insTC	NP_009225.1:p.Asp369ValfsTer6
NM_007297.3:c.964_965insTC	NP_009228.2:p.Asp322ValfsTer6
NM_007298.3:c.787+318_787+319insTC	NP_009229.2:n.787+318_787+319insTC
NM_007299.3:c.787+318_787+319insTC	NP_009230.2:n.787+318_787+319insTC
NM_007300.3:c.1105_1106insTC	NP_009231.2:p.Asp369ValfsTer6
NR_027676.1:n.1241_1242insTC
NM_007294.4:c.1105_1106insTC MANE Select	NP_009225.1:p.Asp369ValfsTer6
NM_007297.4:c.964_965insTC	NP_009228.2:p.Asp322ValfsTer6
NM_007299.4:c.787+318_787+319insTC	NP_009230.2:n.787+318_787+319insTC
NM_007300.4:c.1105_1106insTC	NP_009231.2:p.Asp369ValfsTer6
NR_027676.2:n.1282_1283insTC