Canonical Allele Identifier: CA2260772850

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071026_43071027delinsCT , CM000679.2:g.43071026_43071027delinsCT	GRCh38
NC_000017.10:g.41223043_41223044delinsCT , CM000679.1:g.41223043_41223044delinsCT	GRCh37
NC_000017.9:g.38476569_38476570delinsCT	NCBI36
NG_005905.2:g.146957_146958delinsAG , LRG_292:g.146957_146958delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4884_4885delinsAG	ENSP00000417241.2:p.Glu1628=
ENST00000470026.6:c.4887_4888delinsAG	ENSP00000419274.2:p.Glu1629=
ENST00000473961.6:c.4761_4762delinsAG	ENSP00000420201.2:p.Glu1587=
ENST00000476777.6:c.4881_4882delinsAG	ENSP00000417554.2:p.Glu1627=
ENST00000477152.6:c.4809_4810delinsAG	ENSP00000419988.2:p.Glu1603=
ENST00000478531.6:c.1575_1576delinsAG	ENSP00000420412.2:p.Glu525=
ENST00000489037.2:c.4809_4810delinsAG	ENSP00000420781.2:p.Glu1603=
ENST00000493919.6:c.1437_1438delinsAG	ENSP00000418819.2:p.Glu479=
ENST00000494123.6:c.4887_4888delinsAG	ENSP00000419103.2:p.Glu1629=
ENST00000497488.2:c.3999_4000delinsAG	ENSP00000418986.2:p.Glu1333=
ENST00000618469.2:c.4887_4888delinsAG	ENSP00000478114.2:p.Glu1629=
ENST00000634433.2:c.4764_4765delinsAG	ENSP00000489431.2:p.Glu1588=
ENST00000644379.2:c.4953_4954delinsAG	ENSP00000496570.2:p.Glu1651=
ENST00000644555.2:c.1437_1438delinsAG	ENSP00000494614.2:p.Glu479=
ENST00000652672.2:c.4746_4747delinsAG	ENSP00000498906.2:p.Glu1582=
ENST00000484087.6:c.1449_1450delinsAG	ENSP00000419481.2:p.Glu483=
ENST00000700182.1:c.1494_1495delinsAG	ENSP00000514849.1:p.Glu498=
ENST00000357654.9:c.4887_4888delinsAG MANE Select	ENSP00000350283.3:p.Glu1629=
ENST00000471181.7:c.4950_4951delinsAG	ENSP00000418960.2:p.Glu1650=
ENST00000644379.1:c.1274_1275delinsAG
ENST00000352993.7:c.1461_1462delinsAG	ENSP00000312236.5:p.Glu487=
ENST00000357654.7:c.4887_4888delinsAG	ENSP00000350283.3:p.Glu1629=
ENST00000461221.5:c.*4670_*4671delinsAG	ENSP00000418548.1:n.*4670_*4671delinsAG
ENST00000468300.5:c.1575_1576delinsAG	ENSP00000417148.1:p.Glu525=
ENST00000471181.6:c.4950_4951delinsAG	ENSP00000418960.2:p.Glu1650=
ENST00000472490.1:n.40_41delinsAG
ENST00000478531.5:c.1575_1576delinsAG	ENSP00000420412.1:p.Glu525=
ENST00000484087.5:c.1200_1201delinsAG	ENSP00000419481.1:p.Glu400=
ENST00000491747.6:c.1575_1576delinsAG	ENSP00000420705.2:p.Glu525=
ENST00000493795.5:c.4746_4747delinsAG	ENSP00000418775.1:p.Glu1582=
ENST00000493919.5:c.1437_1438delinsAG	ENSP00000418819.1:p.Glu479=
ENST00000586385.5:c.5-7076_5-7075delinsAG	ENSP00000465818.1:n.5-7076_5-7075delinsAG
ENST00000591534.5:c.360_361delinsAG	ENSP00000467329.1:p.Glu120=
ENST00000591849.5:c.-98-20837_-98-20836delinsAG	ENSP00000465347.1:n.-98-20837_-98-20836delinsAG
NM_007294.3:c.4887_4888delinsAG , LRG_292t1:c.4887_4888delinsAG	NP_009225.1:p.Glu1629=
NM_007297.3:c.4746_4747delinsAG	NP_009228.2:p.Glu1582=
NM_007298.3:c.1575_1576delinsAG	NP_009229.2:p.Glu525=
NM_007299.3:c.1575_1576delinsAG	NP_009230.2:p.Glu525=
NM_007300.3:c.4950_4951delinsAG	NP_009231.2:p.Glu1650=
NR_027676.1:n.5023_5024delinsAG
NM_007294.4:c.4887_4888delinsAG MANE Select	NP_009225.1:p.Glu1629=
NM_007297.4:c.4746_4747delinsAG	NP_009228.2:p.Glu1582=
NM_007299.4:c.1575_1576delinsAG	NP_009230.2:p.Glu525=
NM_007300.4:c.4950_4951delinsAG	NP_009231.2:p.Glu1650=
NR_027676.2:n.5064_5065delinsAG