Canonical Allele Identifier: CA2844066013

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076528_43076540delinsATGCAGACACCTT , CM000679.2:g.43076528_43076540delinsATGCAGACACCTT	GRCh38
NC_000017.10:g.41228545_41228557delinsATGCAGACACCTT , CM000679.1:g.41228545_41228557delinsATGCAGACACCTT	GRCh37
NC_000017.9:g.38482071_38482083delinsATGCAGACACCTT	NCBI36
NG_005905.2:g.141444_141456delinsAAGGTGTCTGCAT , LRG_292:g.141444_141456delinsAAGGTGTCTGCAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4429_4441delinsAAGGTGTCTGCAT	ENSP00000417241.2:p.Glu1477_Asp1481delinsLysValSerAlaTyr
ENST00000470026.6:c.4432_4444delinsAAGGTGTCTGCAT	ENSP00000419274.2:p.Glu1478_Asp1482delinsLysValSerAlaTyr
ENST00000473961.6:c.4306_4318delinsAAGGTGTCTGCAT	ENSP00000420201.2:p.Glu1436_Asp1440delinsLysValSerAlaTyr
ENST00000476777.6:c.4426_4438delinsAAGGTGTCTGCAT	ENSP00000417554.2:p.Glu1476_Asp1480delinsLysValSerAlaTyr
ENST00000477152.6:c.4354_4366delinsAAGGTGTCTGCAT	ENSP00000419988.2:p.Glu1452_Asp1456delinsLysValSerAlaTyr
ENST00000478531.6:c.1120_1132delinsAAGGTGTCTGCAT	ENSP00000420412.2:p.Glu374_Asp378delinsLysValSerAlaTyr
ENST00000489037.2:c.4354_4366delinsAAGGTGTCTGCAT	ENSP00000420781.2:p.Glu1452_Asp1456delinsLysValSerAlaTyr
ENST00000493919.6:c.982_994delinsAAGGTGTCTGCAT	ENSP00000418819.2:p.Glu328_Asp332delinsLysValSerAlaTyr
ENST00000494123.6:c.4432_4444delinsAAGGTGTCTGCAT	ENSP00000419103.2:p.Glu1478_Asp1482delinsLysValSerAlaTyr
ENST00000497488.2:c.3544_3556delinsAAGGTGTCTGCAT	ENSP00000418986.2:p.Glu1182_Asp1186delinsLysValSerAlaTyr
ENST00000618469.2:c.4432_4444delinsAAGGTGTCTGCAT	ENSP00000478114.2:p.Glu1478_Asp1482delinsLysValSerAlaTyr
ENST00000634433.2:c.4309_4321delinsAAGGTGTCTGCAT	ENSP00000489431.2:p.Glu1437_Asp1441delinsLysValSerAlaTyr
ENST00000644379.2:c.4498_4510delinsAAGGTGTCTGCAT	ENSP00000496570.2:p.Glu1500_Asp1504delinsLysValSerAlaTyr
ENST00000644555.2:c.982_994delinsAAGGTGTCTGCAT	ENSP00000494614.2:p.Glu328_Asp332delinsLysValSerAlaTyr
ENST00000652672.2:c.4291_4303delinsAAGGTGTCTGCAT	ENSP00000498906.2:p.Glu1431_Asp1435delinsLysValSerAlaTyr
ENST00000484087.6:c.994_1006delinsAAGGTGTCTGCAT	ENSP00000419481.2:p.Glu332_Asp336delinsLysValSerAlaTyr
ENST00000700182.1:c.1039_1051delinsAAGGTGTCTGCAT	ENSP00000514849.1:p.Glu347_Asp351delinsLysValSerAlaTyr
ENST00000357654.9:c.4432_4444delinsAAGGTGTCTGCAT MANE Select	ENSP00000350283.3:p.Glu1478_Asp1482delinsLysValSerAlaTyr
ENST00000471181.7:c.4495_4507delinsAAGGTGTCTGCAT	ENSP00000418960.2:p.Glu1499_Asp1503delinsLysValSerAlaTyr
ENST00000644379.1:c.819_831delinsAAGGTGTCTGCAT
ENST00000352993.7:c.1006_1018delinsAAGGTGTCTGCAT	ENSP00000312236.5:p.Glu336_Asp340delinsLysValSerAlaTyr
ENST00000357654.7:c.4432_4444delinsAAGGTGTCTGCAT	ENSP00000350283.3:p.Glu1478_Asp1482delinsLysValSerAlaTyr
ENST00000461221.5:c.*4215_*4227delinsAAGGTGTCTGCAT	ENSP00000418548.1:n.*4215_*4227delinsAAGGTGTCTGCAT
ENST00000468300.5:c.1120_1132delinsAAGGTGTCTGCAT	ENSP00000417148.1:p.Glu374_Asp378delinsLysValSerAlaTyr
ENST00000471181.6:c.4495_4507delinsAAGGTGTCTGCAT	ENSP00000418960.2:p.Glu1499_Asp1503delinsLysValSerAlaTyr
ENST00000478531.5:c.1120_1132delinsAAGGTGTCTGCAT	ENSP00000420412.1:p.Glu374_Asp378delinsLysValSerAlaTyr
ENST00000484087.5:c.745_757delinsAAGGTGTCTGCAT	ENSP00000419481.1:p.Glu249_Asp253delinsLysValSerAlaTyr
ENST00000487825.5:c.748_760delinsAAGGTGTCTGCAT	ENSP00000418212.1:p.Glu250_Asp254delinsLysValSerAlaTyr
ENST00000491747.6:c.1120_1132delinsAAGGTGTCTGCAT	ENSP00000420705.2:p.Glu374_Asp378delinsLysValSerAlaTyr
ENST00000493795.5:c.4291_4303delinsAAGGTGTCTGCAT	ENSP00000418775.1:p.Glu1431_Asp1435delinsLysValSerAlaTyr
ENST00000493919.5:c.982_994delinsAAGGTGTCTGCAT	ENSP00000418819.1:p.Glu328_Asp332delinsLysValSerAlaTyr
ENST00000586385.5:c.5-12589_5-12577delinsAAGGTGTCTGCAT	ENSP00000465818.1:n.5-12589_5-12577delinsAAGGTGTCTGCAT
ENST00000591534.5:c.-43-2019_-43-2007delinsAAGGTGTCTGCAT	ENSP00000467329.1:n.-43-2019_-43-2007delinsAAGGTGTCTGCAT
ENST00000591849.5:c.-98-26350_-98-26338delinsAAGGTGTCTGCAT	ENSP00000465347.1:n.-98-26350_-98-26338delinsAAGGTGTCTGCAT
ENST00000621897.1:n.323_335delinsAAGGTGTCTGCAT
NM_007294.3:c.4432_4444delinsAAGGTGTCTGCAT , LRG_292t1:c.4432_4444delinsAAGGTGTCTGCAT	NP_009225.1:p.Glu1478_Asp1482delinsLysValSerAlaTyr
NM_007297.3:c.4291_4303delinsAAGGTGTCTGCAT	NP_009228.2:p.Glu1431_Asp1435delinsLysValSerAlaTyr
NM_007298.3:c.1120_1132delinsAAGGTGTCTGCAT	NP_009229.2:p.Glu374_Asp378delinsLysValSerAlaTyr
NM_007299.3:c.1120_1132delinsAAGGTGTCTGCAT	NP_009230.2:p.Glu374_Asp378delinsLysValSerAlaTyr
NM_007300.3:c.4495_4507delinsAAGGTGTCTGCAT	NP_009231.2:p.Glu1499_Asp1503delinsLysValSerAlaTyr
NR_027676.1:n.4568_4580delinsAAGGTGTCTGCAT
NM_007294.4:c.4432_4444delinsAAGGTGTCTGCAT MANE Select	NP_009225.1:p.Glu1478_Asp1482delinsLysValSerAlaTyr
NM_007297.4:c.4291_4303delinsAAGGTGTCTGCAT	NP_009228.2:p.Glu1431_Asp1435delinsLysValSerAlaTyr
NM_007299.4:c.1120_1132delinsAAGGTGTCTGCAT	NP_009230.2:p.Glu374_Asp378delinsLysValSerAlaTyr
NM_007300.4:c.4495_4507delinsAAGGTGTCTGCAT	NP_009231.2:p.Glu1499_Asp1503delinsLysValSerAlaTyr
NR_027676.2:n.4609_4621delinsAAGGTGTCTGCAT