Canonical Allele Identifier: CA2260771359

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067647_43067648delinsGA , CM000679.2:g.43067647_43067648delinsGA	GRCh38
NC_000017.10:g.41219664_41219665delinsGA , CM000679.1:g.41219664_41219665delinsGA	GRCh37
NC_000017.9:g.38473190_38473191delinsGA	NCBI36
NG_005905.2:g.150336_150337delinsTC , LRG_292:g.150336_150337delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5031_5032delinsTC	ENSP00000417241.2:p.Asn1677=
ENST00000470026.6:c.5034_5035delinsTC	ENSP00000419274.2:p.Asn1678=
ENST00000473961.6:c.4908_4909delinsTC	ENSP00000420201.2:p.Asn1636=
ENST00000476777.6:c.5028_5029delinsTC	ENSP00000417554.2:p.Asn1676=
ENST00000477152.6:c.4956_4957delinsTC	ENSP00000419988.2:p.Asn1652=
ENST00000478531.6:c.1722_1723delinsTC	ENSP00000420412.2:p.Asn574=
ENST00000489037.2:c.4956_4957delinsTC	ENSP00000420781.2:p.Asn1652=
ENST00000493919.6:c.1584_1585delinsTC	ENSP00000418819.2:p.Asn528=
ENST00000494123.6:c.5034_5035delinsTC	ENSP00000419103.2:p.Asn1678=
ENST00000497488.2:c.4146_4147delinsTC	ENSP00000418986.2:p.Asn1382=
ENST00000618469.2:c.5034_5035delinsTC	ENSP00000478114.2:p.Asn1678=
ENST00000634433.2:c.4911_4912delinsTC	ENSP00000489431.2:p.Asn1637=
ENST00000644379.2:c.5100_5101delinsTC	ENSP00000496570.2:p.Asn1700=
ENST00000644555.2:c.1584_1585delinsTC	ENSP00000494614.2:p.Asn528=
ENST00000652672.2:c.4893_4894delinsTC	ENSP00000498906.2:p.Asn1631=
ENST00000484087.6:c.1596_1597delinsTC	ENSP00000419481.2:p.Asn532=
ENST00000357654.9:c.5034_5035delinsTC MANE Select	ENSP00000350283.3:p.Asn1678=
ENST00000471181.7:c.5097_5098delinsTC	ENSP00000418960.2:p.Asn1699=
ENST00000644379.1:c.1421_1422delinsTC
ENST00000352993.7:c.1608_1609delinsTC	ENSP00000312236.5:p.Asn536=
ENST00000357654.7:c.5034_5035delinsTC	ENSP00000350283.3:p.Asn1678=
ENST00000461221.5:c.*4817_*4818delinsTC	ENSP00000418548.1:n.*4817_*4818delinsTC
ENST00000468300.5:c.1722_1723delinsTC	ENSP00000417148.1:p.Asn574=
ENST00000471181.6:c.5097_5098delinsTC	ENSP00000418960.2:p.Asn1699=
ENST00000472490.1:n.187_188delinsTC
ENST00000478531.5:c.1722_1723delinsTC	ENSP00000420412.1:p.Asn574=
ENST00000484087.5:c.1347_1348delinsTC	ENSP00000419481.1:p.Asn449=
ENST00000491747.6:c.1722_1723delinsTC	ENSP00000420705.2:p.Asn574=
ENST00000493795.5:c.4893_4894delinsTC	ENSP00000418775.1:p.Asn1631=
ENST00000493919.5:c.1584_1585delinsTC	ENSP00000418819.1:p.Asn528=
ENST00000586385.5:c.5-3697_5-3696delinsTC	ENSP00000465818.1:n.5-3697_5-3696delinsTC
ENST00000591534.5:c.507_508delinsTC	ENSP00000467329.1:p.Asn169=
ENST00000591849.5:c.-98-17458_-98-17457delinsTC	ENSP00000465347.1:n.-98-17458_-98-17457delinsTC
NM_007294.3:c.5034_5035delinsTC , LRG_292t1:c.5034_5035delinsTC	NP_009225.1:p.Asn1678=
NM_007297.3:c.4893_4894delinsTC	NP_009228.2:p.Asn1631=
NM_007298.3:c.1722_1723delinsTC	NP_009229.2:p.Asn574=
NM_007299.3:c.1722_1723delinsTC	NP_009230.2:p.Asn574=
NM_007300.3:c.5097_5098delinsTC	NP_009231.2:p.Asn1699=
NR_027676.1:n.5170_5171delinsTC
NM_007294.4:c.5034_5035delinsTC MANE Select	NP_009225.1:p.Asn1678=
NM_007297.4:c.4893_4894delinsTC	NP_009228.2:p.Asn1631=
NM_007299.4:c.1722_1723delinsTC	NP_009230.2:p.Asn574=
NM_007300.4:c.5097_5098delinsTC	NP_009231.2:p.Asn1699=
NR_027676.2:n.5211_5212delinsTC