Canonical Allele Identifier: CA2260769560

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063933_43063935delinsTCA , CM000679.2:g.43063933_43063935delinsTCA	GRCh38
NC_000017.10:g.41215950_41215952delinsTCA , CM000679.1:g.41215950_41215952delinsTCA	GRCh37
NC_000017.9:g.38469476_38469478delinsTCA	NCBI36
NG_005905.2:g.154049_154051delinsTGA , LRG_292:g.154049_154051delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5088_5090delinsTGA	ENSP00000417241.2:p.Cys1696=
ENST00000470026.6:c.5091_5093delinsTGA	ENSP00000419274.2:p.Cys1697=
ENST00000473961.6:c.4965_4967delinsTGA	ENSP00000420201.2:p.Cys1655=
ENST00000476777.6:c.5085_5087delinsTGA	ENSP00000417554.2:p.Cys1695=
ENST00000477152.6:c.5013_5015delinsTGA	ENSP00000419988.2:p.Cys1671=
ENST00000478531.6:c.1779_1781delinsTGA	ENSP00000420412.2:p.Cys593=
ENST00000489037.2:c.5013_5015delinsTGA	ENSP00000420781.2:p.Cys1671=
ENST00000493919.6:c.1641_1643delinsTGA	ENSP00000418819.2:p.Cys547=
ENST00000494123.6:c.5091_5093delinsTGA	ENSP00000419103.2:p.Cys1697=
ENST00000497488.2:c.4203_4205delinsTGA	ENSP00000418986.2:p.Cys1401=
ENST00000618469.2:c.5091_5093delinsTGA	ENSP00000478114.2:p.Cys1697=
ENST00000634433.2:c.4968_4970delinsTGA	ENSP00000489431.2:p.Cys1656=
ENST00000644379.2:c.5157_5159delinsTGA	ENSP00000496570.2:p.Cys1719=
ENST00000644555.2:c.1641_1643delinsTGA	ENSP00000494614.2:p.Cys547=
ENST00000652672.2:c.4950_4952delinsTGA	ENSP00000498906.2:p.Cys1650=
ENST00000484087.6:c.1653_1655delinsTGA	ENSP00000419481.2:p.Cys551=
ENST00000357654.9:c.5091_5093delinsTGA MANE Select	ENSP00000350283.3:p.Cys1697=
ENST00000471181.7:c.5154_5156delinsTGA	ENSP00000418960.2:p.Cys1718=
ENST00000644379.1:c.1478_1480delinsTGA
ENST00000352993.7:c.1665_1667delinsTGA	ENSP00000312236.5:p.Cys555=
ENST00000357654.7:c.5091_5093delinsTGA	ENSP00000350283.3:p.Cys1697=
ENST00000461221.5:c.*4874_*4876delinsTGA	ENSP00000418548.1:n.*4874_*4876delinsTGA
ENST00000468300.5:c.1779_1781delinsTGA	ENSP00000417148.1:p.Cys593=
ENST00000471181.6:c.5154_5156delinsTGA	ENSP00000418960.2:p.Cys1718=
ENST00000478531.5:c.1779_1781delinsTGA	ENSP00000420412.1:p.Cys593=
ENST00000484087.5:c.1404_1406delinsTGA	ENSP00000419481.1:p.Cys468=
ENST00000491747.6:c.1779_1781delinsTGA	ENSP00000420705.2:p.Cys593=
ENST00000493795.5:c.4950_4952delinsTGA	ENSP00000418775.1:p.Cys1650=
ENST00000493919.5:c.1641_1643delinsTGA	ENSP00000418819.1:p.Cys547=
ENST00000586385.5:c.21_23delinsTGA	ENSP00000465818.1:p.Cys7=
ENST00000591534.5:c.564_566delinsTGA	ENSP00000467329.1:p.Cys188=
ENST00000591849.5:c.-98-13745_-98-13743delinsTGA	ENSP00000465347.1:n.-98-13745_-98-13743delinsTGA
NM_007294.3:c.5091_5093delinsTGA , LRG_292t1:c.5091_5093delinsTGA	NP_009225.1:p.Cys1697=
NM_007297.3:c.4950_4952delinsTGA	NP_009228.2:p.Cys1650=
NM_007298.3:c.1779_1781delinsTGA	NP_009229.2:p.Cys593=
NM_007299.3:c.1779_1781delinsTGA	NP_009230.2:p.Cys593=
NM_007300.3:c.5154_5156delinsTGA	NP_009231.2:p.Cys1718=
NR_027676.1:n.5227_5229delinsTGA
NM_007294.4:c.5091_5093delinsTGA MANE Select	NP_009225.1:p.Cys1697=
NM_007297.4:c.4950_4952delinsTGA	NP_009228.2:p.Cys1650=
NM_007299.4:c.1779_1781delinsTGA	NP_009230.2:p.Cys593=
NM_007300.4:c.5154_5156delinsTGA	NP_009231.2:p.Cys1718=
NR_027676.2:n.5268_5270delinsTGA