Canonical Allele Identifier: CA2580093802

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2129863
• ClinVar RCV Id: RCV003044253

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082453dup , CM000679.2:g.43082453dup	GRCh38
NC_000017.10:g.41234470dup , CM000679.1:g.41234470dup	GRCh37
NC_000017.9:g.38487996dup	NCBI36
NG_005905.2:g.135532dup , LRG_292:g.135532dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4309dup	ENSP00000417241.2:p.Ser1437PhefsTer4
ENST00000470026.6:c.4309dup	ENSP00000419274.2:p.Ser1437PhefsTer4
ENST00000473961.6:c.4183dup	ENSP00000420201.2:p.Ser1395PhefsTer4
ENST00000476777.6:c.4303dup	ENSP00000417554.2:p.Ser1435PhefsTer4
ENST00000477152.6:c.4231dup	ENSP00000419988.2:p.Ser1411PhefsTer4
ENST00000478531.6:c.997dup	ENSP00000420412.2:p.Ser333PhefsTer4
ENST00000489037.2:c.4231dup	ENSP00000420781.2:p.Ser1411PhefsTer4
ENST00000493919.6:c.859dup	ENSP00000418819.2:p.Ser287PhefsTer4
ENST00000494123.6:c.4309dup	ENSP00000419103.2:p.Ser1437PhefsTer4
ENST00000497488.2:c.3421dup	ENSP00000418986.2:p.Ser1141PhefsTer4
ENST00000618469.2:c.4309dup	ENSP00000478114.2:p.Ser1437PhefsTer4
ENST00000634433.2:c.4186dup	ENSP00000489431.2:p.Ser1396PhefsTer4
ENST00000644379.2:c.4309dup	ENSP00000496570.2:p.Ser1437PhefsTer4
ENST00000644555.2:c.859dup	ENSP00000494614.2:p.Ser287PhefsTer4
ENST00000652672.2:c.4168dup	ENSP00000498906.2:p.Ser1390PhefsTer4
ENST00000484087.6:c.874dup	ENSP00000419481.2:p.Ser292PhefsTer4
ENST00000700182.1:c.919dup	ENSP00000514849.1:p.Ser307PhefsTer4
ENST00000357654.9:c.4309dup MANE Select	ENSP00000350283.3:p.Ser1437PhefsTer4
ENST00000471181.7:c.4309dup	ENSP00000418960.2:p.Ser1437PhefsTer4
ENST00000644379.1:c.630dup
ENST00000352993.7:c.883dup	ENSP00000312236.5:p.Ser295PhefsTer4
ENST00000357654.7:c.4309dup	ENSP00000350283.3:p.Ser1437PhefsTer4
ENST00000461221.5:c.*4092dup	ENSP00000418548.1:n.*4092dup
ENST00000461574.1:c.603dup
ENST00000468300.5:c.1000dup	ENSP00000417148.1:p.Ser334PhefsTer4
ENST00000471181.6:c.4309dup	ENSP00000418960.2:p.Ser1437PhefsTer4
ENST00000478531.5:c.997dup	ENSP00000420412.1:p.Ser333PhefsTer4
ENST00000484087.5:c.622dup	ENSP00000419481.1:p.Ser208PhefsTer4
ENST00000487825.5:c.625dup	ENSP00000418212.1:p.Ser209PhefsTer4
ENST00000491747.6:c.1000dup	ENSP00000420705.2:p.Ser334PhefsTer4
ENST00000493795.5:c.4168dup	ENSP00000418775.1:p.Ser1390PhefsTer4
ENST00000493919.5:c.859dup	ENSP00000418819.1:p.Ser287PhefsTer4
ENST00000586385.5:c.5-18501dup	ENSP00000465818.1:n.5-18501dup
ENST00000591534.5:c.-43-7931dup	ENSP00000467329.1:n.-43-7931dup
ENST00000591849.5:c.-98-32262dup	ENSP00000465347.1:n.-98-32262dup
ENST00000621897.1:n.203dup
NM_007294.3:c.4309dup , LRG_292t1:c.4309dup	NP_009225.1:p.Ser1437PhefsTer4
NM_007297.3:c.4168dup	NP_009228.2:p.Ser1390PhefsTer4
NM_007298.3:c.1000dup	NP_009229.2:p.Ser334PhefsTer4
NM_007299.3:c.1000dup	NP_009230.2:p.Ser334PhefsTer4
NM_007300.3:c.4309dup	NP_009231.2:p.Ser1437PhefsTer4
NR_027676.1:n.4445dup
NM_007294.4:c.4309dup MANE Select	NP_009225.1:p.Ser1437PhefsTer4
NM_007297.4:c.4168dup	NP_009228.2:p.Ser1390PhefsTer4
NM_007299.4:c.1000dup	NP_009230.2:p.Ser334PhefsTer4
NM_007300.4:c.4309dup	NP_009231.2:p.Ser1437PhefsTer4
NR_027676.2:n.4486dup