Canonical Allele Identifier: CA2963270377

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071235_43071237dup , CM000679.2:g.43071235_43071237dup	GRCh38
NC_000017.10:g.41223252_41223254dup , CM000679.1:g.41223252_41223254dup	GRCh37
NC_000017.9:g.38476778_38476780dup	NCBI36
NG_005905.2:g.146747_146749dup , LRG_292:g.146747_146749dup

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.4677_4679dup MANE Select	NP_009225.1:p.Gly1560_Thr1561insGly
ENST00000357654.9:c.4677_4679dup MANE Select	ENSP00000350283.3:p.Gly1560_Thr1561insGly
NM_007294.3:c.4677_4679dup , LRG_292t1:c.4677_4679dup	NP_009225.1:p.Gly1560_Thr1561insGly
NM_007297.3:c.4536_4538dup	NP_009228.2:p.Gly1513_Thr1514insGly
NM_007297.4:c.4536_4538dup	NP_009228.2:p.Gly1513_Thr1514insGly
NM_007298.3:c.1365_1367dup	NP_009229.2:p.Gly456_Thr457insGly
NM_007299.3:c.1365_1367dup	NP_009230.2:p.Gly456_Thr457insGly
NM_007299.4:c.1365_1367dup	NP_009230.2:p.Gly456_Thr457insGly
NM_007300.3:c.4740_4742dup	NP_009231.2:p.Gly1581_Thr1582insGly
NM_007300.4:c.4740_4742dup	NP_009231.2:p.Gly1581_Thr1582insGly
NR_027676.1:n.4813_4815dup
NR_027676.2:n.4854_4856dup
ENST00000352993.7:c.1251_1253dup	ENSP00000312236.5:p.Gly418_Thr419insGly
ENST00000357654.7:c.4677_4679dup	ENSP00000350283.3:p.Gly1560_Thr1561insGly
ENST00000461221.5:c.*4460_*4462dup	ENSP00000418548.1:n.*4460_*4462dup
ENST00000461574.2:c.4674_4676dup	ENSP00000417241.2:p.Gly1559_Thr1560insGly
ENST00000468300.5:c.1365_1367dup	ENSP00000417148.1:p.Gly456_Thr457insGly
ENST00000470026.6:c.4677_4679dup	ENSP00000419274.2:p.Gly1560_Thr1561insGly
ENST00000471181.6:c.4740_4742dup	ENSP00000418960.2:p.Gly1581_Thr1582insGly
ENST00000471181.7:c.4740_4742dup	ENSP00000418960.2:p.Gly1581_Thr1582insGly
ENST00000473961.6:c.4551_4553dup	ENSP00000420201.2:p.Gly1518_Thr1519insGly
ENST00000476777.6:c.4671_4673dup	ENSP00000417554.2:p.Gly1558_Thr1559insGly
ENST00000477152.6:c.4599_4601dup	ENSP00000419988.2:p.Gly1534_Thr1535insGly
ENST00000478531.5:c.1365_1367dup	ENSP00000420412.1:p.Gly456_Thr457insGly
ENST00000478531.6:c.1365_1367dup	ENSP00000420412.2:p.Gly456_Thr457insGly
ENST00000484087.5:c.990_992dup	ENSP00000419481.1:p.Gly331_Thr332insGly
ENST00000484087.6:c.1239_1241dup	ENSP00000419481.2:p.Gly414_Thr415insGly
ENST00000489037.2:c.4599_4601dup	ENSP00000420781.2:p.Gly1534_Thr1535insGly
ENST00000491747.6:c.1365_1367dup	ENSP00000420705.2:p.Gly456_Thr457insGly
ENST00000493795.5:c.4536_4538dup	ENSP00000418775.1:p.Gly1513_Thr1514insGly
ENST00000493919.5:c.1227_1229dup	ENSP00000418819.1:p.Gly410_Thr411insGly
ENST00000493919.6:c.1227_1229dup	ENSP00000418819.2:p.Gly410_Thr411insGly
ENST00000494123.6:c.4677_4679dup	ENSP00000419103.2:p.Gly1560_Thr1561insGly
ENST00000497488.2:c.3789_3791dup	ENSP00000418986.2:p.Gly1264_Thr1265insGly
ENST00000586385.5:c.5-7286_5-7284dup	ENSP00000465818.1:n.5-7286_5-7284dup
ENST00000591534.5:c.150_152dup	ENSP00000467329.1:p.Gly51_Thr52insGly
ENST00000591849.5:c.-98-21047_-98-21045dup	ENSP00000465347.1:n.-98-21047_-98-21045dup
ENST00000618469.2:c.4677_4679dup	ENSP00000478114.2:p.Gly1560_Thr1561insGly
ENST00000634433.2:c.4554_4556dup	ENSP00000489431.2:p.Gly1519_Thr1520insGly
ENST00000644379.1:c.1064_1066dup
ENST00000644379.2:c.4743_4745dup	ENSP00000496570.2:p.Gly1582_Thr1583insGly
ENST00000644555.2:c.1227_1229dup	ENSP00000494614.2:p.Gly410_Thr411insGly
ENST00000652672.2:c.4536_4538dup	ENSP00000498906.2:p.Gly1513_Thr1514insGly
ENST00000700182.1:c.1284_1286dup	ENSP00000514849.1:p.Gly429_Thr430insGly