Canonical Allele Identifier: CA2695225932

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082421_43082422insTTTC , CM000679.2:g.43082421_43082422insTTTC	GRCh38
NC_000017.10:g.41234438_41234439insTTTC , CM000679.1:g.41234438_41234439insTTTC	GRCh37
NC_000017.9:g.38487964_38487965insTTTC	NCBI36
NG_005905.2:g.135562_135563insGAAA , LRG_292:g.135562_135563insGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4339_4340insGAAA	ENSP00000417241.2:p.Gln1447ArgfsTer15
ENST00000470026.6:c.4339_4340insGAAA	ENSP00000419274.2:p.Gln1447ArgfsTer16
ENST00000473961.6:c.4213_4214insGAAA	ENSP00000420201.2:p.Gln1405ArgfsTer16
ENST00000476777.6:c.4333_4334insGAAA	ENSP00000417554.2:p.Gln1445ArgfsTer16
ENST00000477152.6:c.4261_4262insGAAA	ENSP00000419988.2:p.Gln1421ArgfsTer16
ENST00000478531.6:c.1027_1028insGAAA	ENSP00000420412.2:p.Gln343ArgfsTer16
ENST00000489037.2:c.4261_4262insGAAA	ENSP00000420781.2:p.Gln1421ArgfsTer16
ENST00000493919.6:c.889_890insGAAA	ENSP00000418819.2:p.Gln297ArgfsTer16
ENST00000494123.6:c.4339_4340insGAAA	ENSP00000419103.2:p.Gln1447ArgfsTer16
ENST00000497488.2:c.3451_3452insGAAA	ENSP00000418986.2:p.Gln1151ArgfsTer16
ENST00000618469.2:c.4339_4340insGAAA	ENSP00000478114.2:p.Gln1447ArgfsTer16
ENST00000634433.2:c.4216_4217insGAAA	ENSP00000489431.2:p.Gln1406ArgfsTer16
ENST00000644379.2:c.4339_4340insGAAA	ENSP00000496570.2:p.Gln1447ArgfsTer22
ENST00000644555.2:c.889_890insGAAA	ENSP00000494614.2:p.Gln297ArgfsTer16
ENST00000652672.2:c.4198_4199insGAAA	ENSP00000498906.2:p.Gln1400ArgfsTer16
ENST00000484087.6:c.904_905insGAAA	ENSP00000419481.2:p.Gln302ArgfsTer15
ENST00000700182.1:c.949_950insGAAA	ENSP00000514849.1:p.Gln317ArgfsTer15
ENST00000357654.9:c.4339_4340insGAAA MANE Select	ENSP00000350283.3:p.Gln1447ArgfsTer16
ENST00000471181.7:c.4339_4340insGAAA	ENSP00000418960.2:p.Gln1447ArgfsTer22
ENST00000644379.1:c.660_661insGAAA
ENST00000352993.7:c.913_914insGAAA	ENSP00000312236.5:p.Gln305ArgfsTer16
ENST00000357654.7:c.4339_4340insGAAA	ENSP00000350283.3:p.Gln1447ArgfsTer16
ENST00000461221.5:c.*4122_*4123insGAAA	ENSP00000418548.1:n.*4122_*4123insGAAA
ENST00000461574.1:c.633_634insGAAA
ENST00000468300.5:c.1030_1031insGAAA	ENSP00000417148.1:p.Gln344ArgfsTer15
ENST00000471181.6:c.4339_4340insGAAA	ENSP00000418960.2:p.Gln1447ArgfsTer22
ENST00000478531.5:c.1027_1028insGAAA	ENSP00000420412.1:p.Gln343ArgfsTer16
ENST00000484087.5:c.652_653insGAAA	ENSP00000419481.1:p.Gln218ArgfsTer16
ENST00000487825.5:c.655_656insGAAA	ENSP00000418212.1:p.Gln219ArgfsTer16
ENST00000491747.6:c.1030_1031insGAAA	ENSP00000420705.2:p.Gln344ArgfsTer15
ENST00000493795.5:c.4198_4199insGAAA	ENSP00000418775.1:p.Gln1400ArgfsTer16
ENST00000493919.5:c.889_890insGAAA	ENSP00000418819.1:p.Gln297ArgfsTer16
ENST00000586385.5:c.5-18471_5-18470insGAAA	ENSP00000465818.1:n.5-18471_5-18470insGAAA
ENST00000591534.5:c.-43-7901_-43-7900insGAAA	ENSP00000467329.1:n.-43-7901_-43-7900insGAAA
ENST00000591849.5:c.-98-32232_-98-32231insGAAA	ENSP00000465347.1:n.-98-32232_-98-32231insGAAA
ENST00000621897.1:n.233_234insGAAA
NM_007294.3:c.4339_4340insGAAA , LRG_292t1:c.4339_4340insGAAA	NP_009225.1:p.Gln1447ArgfsTer16
NM_007297.3:c.4198_4199insGAAA	NP_009228.2:p.Gln1400ArgfsTer16
NM_007298.3:c.1030_1031insGAAA	NP_009229.2:p.Gln344ArgfsTer15
NM_007299.3:c.1030_1031insGAAA	NP_009230.2:p.Gln344ArgfsTer15
NM_007300.3:c.4339_4340insGAAA	NP_009231.2:p.Gln1447ArgfsTer22
NR_027676.1:n.4475_4476insGAAA
NM_007294.4:c.4339_4340insGAAA MANE Select	NP_009225.1:p.Gln1447ArgfsTer16
NM_007297.4:c.4198_4199insGAAA	NP_009228.2:p.Gln1400ArgfsTer16
NM_007299.4:c.1030_1031insGAAA	NP_009230.2:p.Gln344ArgfsTer15
NM_007300.4:c.4339_4340insGAAA	NP_009231.2:p.Gln1447ArgfsTer22
NR_027676.2:n.4516_4517insGAAA