Canonical Allele Identifier: CA658825025

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548209
• ClinVar RCV Id: RCV000661049
• dbSNP Id: rs1555586100
• MyVariant Identifiers: chr17:g.41242977_41242978dup (hg19) ; chr17:g.43090960_43090961dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090960_43090961dup , CM000679.2:g.43090960_43090961dup	GRCh38
NC_000017.10:g.41242977_41242978dup , CM000679.1:g.41242977_41242978dup	GRCh37
NC_000017.9:g.38496503_38496504dup	NCBI36
NG_005905.2:g.127023_127024dup , LRG_292:g.127023_127024dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4168_4169dup	ENSP00000417241.2:p.Asp1390GlufsTer4
ENST00000470026.6:c.4168_4169dup	ENSP00000419274.2:p.Asp1390GlufsTer4
ENST00000473961.6:c.4042_4043dup	ENSP00000420201.2:p.Asp1348GlufsTer4
ENST00000476777.6:c.4165_4166dup	ENSP00000417554.2:p.Asp1389GlufsTer4
ENST00000477152.6:c.4090_4091dup	ENSP00000419988.2:p.Asp1364GlufsTer4
ENST00000478531.6:c.856_857dup	ENSP00000420412.2:p.Asp286GlufsTer4
ENST00000489037.2:c.4090_4091dup	ENSP00000420781.2:p.Asp1364GlufsTer4
ENST00000493919.6:c.718_719dup	ENSP00000418819.2:p.Asp240GlufsTer4
ENST00000494123.6:c.4168_4169dup	ENSP00000419103.2:p.Asp1390GlufsTer4
ENST00000497488.2:c.3280_3281dup	ENSP00000418986.2:p.Asp1094GlufsTer4
ENST00000618469.2:c.4168_4169dup	ENSP00000478114.2:p.Asp1390GlufsTer4
ENST00000634433.2:c.4045_4046dup	ENSP00000489431.2:p.Asp1349GlufsTer4
ENST00000644379.2:c.4168_4169dup	ENSP00000496570.2:p.Asp1390GlufsTer4
ENST00000644555.2:c.718_719dup	ENSP00000494614.2:p.Asp240GlufsTer4
ENST00000652672.2:c.4027_4028dup	ENSP00000498906.2:p.Asp1343GlufsTer4
ENST00000484087.6:c.736_737dup	ENSP00000419481.2:p.Asp246GlufsTer4
ENST00000700182.1:c.778_779dup	ENSP00000514849.1:p.Asp260GlufsTer4
ENST00000357654.9:c.4168_4169dup MANE Select	ENSP00000350283.3:p.Asp1390GlufsTer4
ENST00000471181.7:c.4168_4169dup	ENSP00000418960.2:p.Asp1390GlufsTer4
ENST00000644379.1:c.489_490dup
ENST00000352993.7:c.742_743dup	ENSP00000312236.5:p.Asp248GlufsTer4
ENST00000357654.7:c.4168_4169dup	ENSP00000350283.3:p.Asp1390GlufsTer4
ENST00000461221.5:c.*3951_*3952dup	ENSP00000418548.1:n.*3951_*3952dup
ENST00000461574.1:c.462_463dup
ENST00000468300.5:c.859_860dup	ENSP00000417148.1:p.Asp287GlufsTer4
ENST00000471181.6:c.4168_4169dup	ENSP00000418960.2:p.Asp1390GlufsTer4
ENST00000478531.5:c.856_857dup	ENSP00000420412.1:p.Asp286GlufsTer4
ENST00000484087.5:c.481_482dup	ENSP00000419481.1:p.Asp161GlufsTer4
ENST00000487825.5:c.484_485dup	ENSP00000418212.1:p.Asp162GlufsTer4
ENST00000491747.6:c.859_860dup	ENSP00000420705.2:p.Asp287GlufsTer4
ENST00000493795.5:c.4027_4028dup	ENSP00000418775.1:p.Asp1343GlufsTer4
ENST00000493919.5:c.718_719dup	ENSP00000418819.1:p.Asp240GlufsTer4
ENST00000586385.5:c.5-27010_5-27009dup	ENSP00000465818.1:n.5-27010_5-27009dup
ENST00000591534.5:c.-43-16440_-43-16439dup	ENSP00000467329.1:n.-43-16440_-43-16439dup
ENST00000591849.5:c.-99+34310_-99+34311dup	ENSP00000465347.1:n.-99+34310_-99+34311dup
NM_007294.3:c.4168_4169dup , LRG_292t1:c.4168_4169dup	NP_009225.1:p.Asp1390GlufsTer4
NM_007297.3:c.4027_4028dup	NP_009228.2:p.Asp1343GlufsTer4
NM_007298.3:c.859_860dup	NP_009229.2:p.Asp287GlufsTer4
NM_007299.3:c.859_860dup	NP_009230.2:p.Asp287GlufsTer4
NM_007300.3:c.4168_4169dup	NP_009231.2:p.Asp1390GlufsTer4
NR_027676.1:n.4304_4305dup
NM_007294.4:c.4168_4169dup MANE Select	NP_009225.1:p.Asp1390GlufsTer4
NM_007297.4:c.4027_4028dup	NP_009228.2:p.Asp1343GlufsTer4
NM_007299.4:c.859_860dup	NP_009230.2:p.Asp287GlufsTer4
NM_007300.4:c.4168_4169dup	NP_009231.2:p.Asp1390GlufsTer4
NR_027676.2:n.4345_4346dup