Canonical Allele Identifier: CA658798850

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 531380
• ClinVar RCV Id: RCV000637684 ; RCV001010154
• dbSNP Id: rs1555592304
• MyVariant Identifiers: chr17:g.41246368_41246369dup (hg19) ; chr17:g.43094351_43094352dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094351_43094352dup , CM000679.2:g.43094351_43094352dup	GRCh38
NC_000017.10:g.41246368_41246369dup , CM000679.1:g.41246368_41246369dup	GRCh37
NC_000017.9:g.38499894_38499895dup	NCBI36
NG_005905.2:g.123632_123633dup , LRG_292:g.123632_123633dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1243_1244dup
ENST00000461574.2:c.1179_1180dup	ENSP00000417241.2:p.Gly394GlufsTer17
ENST00000470026.6:c.1179_1180dup	ENSP00000419274.2:p.Gly394GlufsTer17
ENST00000473961.6:c.1053_1054dup	ENSP00000420201.2:p.Gly352GlufsTer17
ENST00000476777.6:c.1176_1177dup	ENSP00000417554.2:p.Gly393GlufsTer17
ENST00000477152.6:c.1101_1102dup	ENSP00000419988.2:p.Gly368GlufsTer17
ENST00000478531.6:c.784+392_784+393dup	ENSP00000420412.2:n.784+392_784+393dup
ENST00000489037.2:c.1101_1102dup	ENSP00000420781.2:p.Gly368GlufsTer17
ENST00000493919.6:c.646+392_646+393dup	ENSP00000418819.2:n.646+392_646+393dup
ENST00000494123.6:c.1179_1180dup	ENSP00000419103.2:p.Gly394GlufsTer17
ENST00000497488.2:c.291_292dup	ENSP00000418986.2:p.Gly98GlufsTer17
ENST00000618469.2:c.1179_1180dup	ENSP00000478114.2:p.Gly394GlufsTer17
ENST00000634433.2:c.1056_1057dup	ENSP00000489431.2:p.Gly353GlufsTer17
ENST00000644379.2:c.1179_1180dup	ENSP00000496570.2:p.Gly394GlufsTer17
ENST00000644555.2:c.646+392_646+393dup	ENSP00000494614.2:n.646+392_646+393dup
ENST00000652672.2:c.1038_1039dup	ENSP00000498906.2:p.Gly347GlufsTer17
ENST00000484087.6:c.664+392_664+393dup	ENSP00000419481.2:n.664+392_664+393dup
ENST00000700182.1:c.706+392_706+393dup	ENSP00000514849.1:n.706+392_706+393dup
ENST00000700183.1:c.*1187_*1188dup	ENSP00000514850.1:n.*1187_*1188dup
ENST00000357654.9:c.1179_1180dup MANE Select	ENSP00000350283.3:p.Gly394GlufsTer17
ENST00000471181.7:c.1179_1180dup	ENSP00000418960.2:p.Gly394GlufsTer17
ENST00000652672.1:c.1038_1039dup	ENSP00000498906.1:p.Gly347GlufsTer17
ENST00000352993.7:c.670+1494_670+1495dup	ENSP00000312236.5:n.670+1494_670+1495dup
ENST00000354071.7:c.1179_1180dup	ENSP00000326002.7:p.Gly394GlufsTer17
ENST00000357654.7:c.1179_1180dup	ENSP00000350283.3:p.Gly394GlufsTer17
ENST00000412061.3:c.530_531dup
ENST00000461221.5:c.*962_*963dup	ENSP00000418548.1:n.*962_*963dup
ENST00000468300.5:c.787+392_787+393dup	ENSP00000417148.1:n.787+392_787+393dup
ENST00000470026.5:c.1179_1180dup	ENSP00000419274.1:p.Gly394GlufsTer17
ENST00000471181.6:c.1179_1180dup	ENSP00000418960.2:p.Gly394GlufsTer17
ENST00000473961.5:c.776_777dup
ENST00000477152.5:c.1101_1102dup	ENSP00000419988.1:p.Gly368GlufsTer17
ENST00000478531.5:c.784+392_784+393dup	ENSP00000420412.1:n.784+392_784+393dup
ENST00000484087.5:c.409+392_409+393dup	ENSP00000419481.1:n.409+392_409+393dup
ENST00000487825.5:c.412+392_412+393dup	ENSP00000418212.1:n.412+392_412+393dup
ENST00000491747.6:c.787+392_787+393dup	ENSP00000420705.2:n.787+392_787+393dup
ENST00000492859.5:c.*1115_*1116dup	ENSP00000420253.1:n.*1115_*1116dup
ENST00000493795.5:c.1038_1039dup	ENSP00000418775.1:p.Gly347GlufsTer17
ENST00000493919.5:c.646+392_646+393dup	ENSP00000418819.1:n.646+392_646+393dup
ENST00000494123.5:c.1179_1180dup	ENSP00000419103.1:p.Gly394GlufsTer17
ENST00000497488.1:c.291_292dup	ENSP00000418986.1:p.Gly98GlufsTer17
ENST00000586385.5:c.5-30401_5-30400dup	ENSP00000465818.1:n.5-30401_5-30400dup
ENST00000591534.5:c.-43-19831_-43-19830dup	ENSP00000467329.1:n.-43-19831_-43-19830du...
ENST00000591849.5:c.-99+30919_-99+30920dup	ENSP00000465347.1:n.-99+30919_-99+30920du...
ENST00000634433.1:c.1056_1057dup	ENSP00000489431.1:p.Gly353GlufsTer17
NM_007294.3:c.1179_1180dup , LRG_292t1:c.1179_1180dup	NP_009225.1:p.Gly394GlufsTer17
NM_007297.3:c.1038_1039dup	NP_009228.2:p.Gly347GlufsTer17
NM_007298.3:c.787+392_787+393dup	NP_009229.2:n.787+392_787+393dup
NM_007299.3:c.787+392_787+393dup	NP_009230.2:n.787+392_787+393dup
NM_007300.3:c.1179_1180dup	NP_009231.2:p.Gly394GlufsTer17
NR_027676.1:n.1315_1316dup
NM_007294.4:c.1179_1180dup MANE Select	NP_009225.1:p.Gly394GlufsTer17
NM_007297.4:c.1038_1039dup	NP_009228.2:p.Gly347GlufsTer17
NM_007299.4:c.787+392_787+393dup	NP_009230.2:n.787+392_787+393dup
NM_007300.4:c.1179_1180dup	NP_009231.2:p.Gly394GlufsTer17
NR_027676.2:n.1356_1357dup