Canonical Allele Identifier: CA916080211

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 848658
• ClinVar RCV Id: RCV001052462
• dbSNP Id: rs2052726634

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076530_43076531delinsAG , CM000679.2:g.43076530_43076531delinsAG	GRCh38
NC_000017.10:g.41228547_41228548delinsAG , CM000679.1:g.41228547_41228548delinsAG	GRCh37
NC_000017.9:g.38482073_38482074delinsAG	NCBI36
NG_005905.2:g.141453_141454delinsCT , LRG_292:g.141453_141454delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4438_4439delinsCT	ENSP00000417241.2:p.Ala1480Leu
ENST00000470026.6:c.4441_4442delinsCT	ENSP00000419274.2:p.Ala1481Leu
ENST00000473961.6:c.4315_4316delinsCT	ENSP00000420201.2:p.Ala1439Leu
ENST00000476777.6:c.4435_4436delinsCT	ENSP00000417554.2:p.Ala1479Leu
ENST00000477152.6:c.4363_4364delinsCT	ENSP00000419988.2:p.Ala1455Leu
ENST00000478531.6:c.1129_1130delinsCT	ENSP00000420412.2:p.Ala377Leu
ENST00000489037.2:c.4363_4364delinsCT	ENSP00000420781.2:p.Ala1455Leu
ENST00000493919.6:c.991_992delinsCT	ENSP00000418819.2:p.Ala331Leu
ENST00000494123.6:c.4441_4442delinsCT	ENSP00000419103.2:p.Ala1481Leu
ENST00000497488.2:c.3553_3554delinsCT	ENSP00000418986.2:p.Ala1185Leu
ENST00000618469.2:c.4441_4442delinsCT	ENSP00000478114.2:p.Ala1481Leu
ENST00000634433.2:c.4318_4319delinsCT	ENSP00000489431.2:p.Ala1440Leu
ENST00000644379.2:c.4507_4508delinsCT	ENSP00000496570.2:p.Ala1503Leu
ENST00000644555.2:c.991_992delinsCT	ENSP00000494614.2:p.Ala331Leu
ENST00000652672.2:c.4300_4301delinsCT	ENSP00000498906.2:p.Ala1434Leu
ENST00000484087.6:c.1003_1004delinsCT	ENSP00000419481.2:p.Ala335Leu
ENST00000700182.1:c.1048_1049delinsCT	ENSP00000514849.1:p.Ala350Leu
ENST00000357654.9:c.4441_4442delinsCT MANE Select	ENSP00000350283.3:p.Ala1481Leu
ENST00000471181.7:c.4504_4505delinsCT	ENSP00000418960.2:p.Ala1502Leu
ENST00000644379.1:c.828_829delinsCT
ENST00000352993.7:c.1015_1016delinsCT	ENSP00000312236.5:p.Ala339Leu
ENST00000357654.7:c.4441_4442delinsCT	ENSP00000350283.3:p.Ala1481Leu
ENST00000461221.5:c.*4224_*4225delinsCT	ENSP00000418548.1:n.*4224_*4225delinsCT
ENST00000468300.5:c.1129_1130delinsCT	ENSP00000417148.1:p.Ala377Leu
ENST00000471181.6:c.4504_4505delinsCT	ENSP00000418960.2:p.Ala1502Leu
ENST00000478531.5:c.1129_1130delinsCT	ENSP00000420412.1:p.Ala377Leu
ENST00000484087.5:c.754_755delinsCT	ENSP00000419481.1:p.Ala252Leu
ENST00000487825.5:c.757_758delinsCT	ENSP00000418212.1:p.Ala253Leu
ENST00000491747.6:c.1129_1130delinsCT	ENSP00000420705.2:p.Ala377Leu
ENST00000493795.5:c.4300_4301delinsCT	ENSP00000418775.1:p.Ala1434Leu
ENST00000493919.5:c.991_992delinsCT	ENSP00000418819.1:p.Ala331Leu
ENST00000586385.5:c.5-12580_5-12579delinsCT	ENSP00000465818.1:n.5-12580_5-12579delinsCT
ENST00000591534.5:c.-43-2010_-43-2009delinsCT	ENSP00000467329.1:n.-43-2010_-43-2009delinsCT
ENST00000591849.5:c.-98-26341_-98-26340delinsCT	ENSP00000465347.1:n.-98-26341_-98-26340delinsCT
ENST00000621897.1:n.332_333delinsCT
NM_007294.3:c.4441_4442delinsCT , LRG_292t1:c.4441_4442delinsCT	NP_009225.1:p.Ala1481Leu
NM_007297.3:c.4300_4301delinsCT	NP_009228.2:p.Ala1434Leu
NM_007298.3:c.1129_1130delinsCT	NP_009229.2:p.Ala377Leu
NM_007299.3:c.1129_1130delinsCT	NP_009230.2:p.Ala377Leu
NM_007300.3:c.4504_4505delinsCT	NP_009231.2:p.Ala1502Leu
NR_027676.1:n.4577_4578delinsCT
NM_007294.4:c.4441_4442delinsCT MANE Select	NP_009225.1:p.Ala1481Leu
NM_007297.4:c.4300_4301delinsCT	NP_009228.2:p.Ala1434Leu
NM_007299.4:c.1129_1130delinsCT	NP_009230.2:p.Ala377Leu
NM_007300.4:c.4504_4505delinsCT	NP_009231.2:p.Ala1502Leu
NR_027676.2:n.4618_4619delinsCT