Canonical Allele Identifier: CA1139770825

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063878_43063881del , CM000679.2:g.43063878_43063881del	GRCh38
NC_000017.10:g.41215895_41215898del , CM000679.1:g.41215895_41215898del	GRCh37
NC_000017.9:g.38469421_38469424del	NCBI36
NG_005905.2:g.154103_154106del , LRG_292:g.154103_154106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5142_5145del	ENSP00000417241.2:p.Tyr1715SerfsTer3
ENST00000470026.6:c.5145_5148del	ENSP00000419274.2:p.Tyr1716SerfsTer3
ENST00000473961.6:c.5019_5022del	ENSP00000420201.2:p.Tyr1674SerfsTer3
ENST00000476777.6:c.5139_5142del	ENSP00000417554.2:p.Tyr1714SerfsTer3
ENST00000477152.6:c.5067_5070del	ENSP00000419988.2:p.Tyr1690SerfsTer3
ENST00000478531.6:c.1833_1836del	ENSP00000420412.2:p.Tyr612SerfsTer3
ENST00000489037.2:c.5067_5070del	ENSP00000420781.2:p.Tyr1690SerfsTer3
ENST00000493919.6:c.1695_1698del	ENSP00000418819.2:p.Tyr566SerfsTer3
ENST00000494123.6:c.5145_5148del	ENSP00000419103.2:p.Tyr1716SerfsTer3
ENST00000497488.2:c.4257_4260del	ENSP00000418986.2:p.Tyr1420SerfsTer3
ENST00000618469.2:c.5145_5148del	ENSP00000478114.2:p.Tyr1716SerfsTer3
ENST00000634433.2:c.5022_5025del	ENSP00000489431.2:p.Tyr1675SerfsTer3
ENST00000644379.2:c.5211_5214del	ENSP00000496570.2:p.Tyr1738SerfsTer3
ENST00000644555.2:c.1695_1698del	ENSP00000494614.2:p.Tyr566SerfsTer3
ENST00000652672.2:c.5004_5007del	ENSP00000498906.2:p.Tyr1669SerfsTer3
ENST00000484087.6:c.1707_1710del	ENSP00000419481.2:p.Tyr570SerfsTer3
ENST00000357654.9:c.5145_5148del MANE Select	ENSP00000350283.3:p.Tyr1716SerfsTer3
ENST00000471181.7:c.5208_5211del	ENSP00000418960.2:p.Tyr1737SerfsTer3
ENST00000644379.1:c.1532_1535del
ENST00000352993.7:c.1719_1722del	ENSP00000312236.5:p.Tyr574SerfsTer3
ENST00000357654.7:c.5145_5148del	ENSP00000350283.3:p.Tyr1716SerfsTer3
ENST00000461221.5:c.*4928_*4931del	ENSP00000418548.1:n.*4928_*4931del
ENST00000468300.5:c.1833_1836del	ENSP00000417148.1:p.Tyr612SerfsTer3
ENST00000471181.6:c.5208_5211del	ENSP00000418960.2:p.Tyr1737SerfsTer3
ENST00000478531.5:c.1833_1836del	ENSP00000420412.1:p.Tyr612SerfsTer3
ENST00000484087.5:c.1458_1461del	ENSP00000419481.1:p.Tyr487SerfsTer3
ENST00000491747.6:c.1833_1836del	ENSP00000420705.2:p.Tyr612SerfsTer3
ENST00000493795.5:c.5004_5007del	ENSP00000418775.1:p.Tyr1669SerfsTer3
ENST00000493919.5:c.1695_1698del	ENSP00000418819.1:p.Tyr566SerfsTer3
ENST00000586385.5:c.75_78del	ENSP00000465818.1:p.Tyr26SerfsTer3
ENST00000591534.5:c.618_621del	ENSP00000467329.1:p.Tyr207SerfsTer3
ENST00000591849.5:c.-98-13691_-98-13688del	ENSP00000465347.1:n.-98-13691_-98-13688del
NM_007294.3:c.5145_5148del , LRG_292t1:c.5145_5148del	NP_009225.1:p.Tyr1716SerfsTer3
NM_007297.3:c.5004_5007del	NP_009228.2:p.Tyr1669SerfsTer3
NM_007298.3:c.1833_1836del	NP_009229.2:p.Tyr612SerfsTer3
NM_007299.3:c.1833_1836del	NP_009230.2:p.Tyr612SerfsTer3
NM_007300.3:c.5208_5211del	NP_009231.2:p.Tyr1737SerfsTer3
NR_027676.1:n.5281_5284del
NM_007294.4:c.5145_5148del MANE Select	NP_009225.1:p.Tyr1716SerfsTer3
NM_007297.4:c.5004_5007del	NP_009228.2:p.Tyr1669SerfsTer3
NM_007299.4:c.1833_1836del	NP_009230.2:p.Tyr612SerfsTer3
NM_007300.4:c.5208_5211del	NP_009231.2:p.Tyr1737SerfsTer3
NR_027676.2:n.5322_5325del