Canonical Allele Identifier: CA3273042575

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067612_43067614delinsCTG , CM000679.2:g.43067612_43067614delinsCTG	GRCh38
NC_000017.10:g.41219629_41219631delinsCTG , CM000679.1:g.41219629_41219631delinsCTG	GRCh37
NC_000017.9:g.38473155_38473157delinsCTG	NCBI36
NG_005905.2:g.150370_150372delinsCAG , LRG_292:g.150370_150372delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
NM_007294.4:c.5068_5070delinsCAG MANE Select	NP_009225.1:p.Lys1690Gln
ENST00000357654.9:c.5068_5070delinsCAG MANE Select	ENSP00000350283.3:p.Lys1690Gln
NM_007294.3:c.5068_5070delinsCAG , LRG_292t1:c.5068_5070delinsCAG	NP_009225.1:p.Lys1690Gln
NM_007297.3:c.4927_4929delinsCAG	NP_009228.2:p.Lys1643Gln
NM_007297.4:c.4927_4929delinsCAG	NP_009228.2:p.Lys1643Gln
NM_007298.3:c.1756_1758delinsCAG	NP_009229.2:p.Lys586Gln
NM_007299.3:c.1756_1758delinsCAG	NP_009230.2:p.Lys586Gln
NM_007299.4:c.1756_1758delinsCAG	NP_009230.2:p.Lys586Gln
NM_007300.3:c.5131_5133delinsCAG	NP_009231.2:p.Lys1711Gln
NM_007300.4:c.5131_5133delinsCAG	NP_009231.2:p.Lys1711Gln
NR_027676.1:n.5204_5206delinsCAG
NR_027676.2:n.5245_5247delinsCAG
ENST00000352993.7:c.1642_1644delinsCAG	ENSP00000312236.5:p.Lys548Gln
ENST00000357654.7:c.5068_5070delinsCAG	ENSP00000350283.3:p.Lys1690Gln
ENST00000461221.5:c.*4851_*4853delinsCAG	ENSP00000418548.1:n.*4851_*4853delinsCAG
ENST00000461574.2:c.5065_5067delinsCAG	ENSP00000417241.2:p.Lys1689Gln
ENST00000468300.5:c.1756_1758delinsCAG	ENSP00000417148.1:p.Lys586Gln
ENST00000470026.6:c.5068_5070delinsCAG	ENSP00000419274.2:p.Lys1690Gln
ENST00000471181.6:c.5131_5133delinsCAG	ENSP00000418960.2:p.Lys1711Gln
ENST00000471181.7:c.5131_5133delinsCAG	ENSP00000418960.2:p.Lys1711Gln
ENST00000472490.1:n.221_223delinsCAG
ENST00000473961.6:c.4942_4944delinsCAG	ENSP00000420201.2:p.Lys1648Gln
ENST00000476777.6:c.5062_5064delinsCAG	ENSP00000417554.2:p.Lys1688Gln
ENST00000477152.6:c.4990_4992delinsCAG	ENSP00000419988.2:p.Lys1664Gln
ENST00000478531.5:c.1756_1758delinsCAG	ENSP00000420412.1:p.Lys586Gln
ENST00000478531.6:c.1756_1758delinsCAG	ENSP00000420412.2:p.Lys586Gln
ENST00000484087.5:c.1381_1383delinsCAG	ENSP00000419481.1:p.Lys461Gln
ENST00000484087.6:c.1630_1632delinsCAG	ENSP00000419481.2:p.Lys544Gln
ENST00000489037.2:c.4990_4992delinsCAG	ENSP00000420781.2:p.Lys1664Gln
ENST00000491747.6:c.1756_1758delinsCAG	ENSP00000420705.2:p.Lys586Gln
ENST00000493795.5:c.4927_4929delinsCAG	ENSP00000418775.1:p.Lys1643Gln
ENST00000493919.5:c.1618_1620delinsCAG	ENSP00000418819.1:p.Lys540Gln
ENST00000493919.6:c.1618_1620delinsCAG	ENSP00000418819.2:p.Lys540Gln
ENST00000494123.6:c.5068_5070delinsCAG	ENSP00000419103.2:p.Lys1690Gln
ENST00000497488.2:c.4180_4182delinsCAG	ENSP00000418986.2:p.Lys1394Gln
ENST00000586385.5:c.5-3663_5-3661delinsCAG	ENSP00000465818.1:n.5-3663_5-3661delinsCAG
ENST00000591534.5:c.541_543delinsCAG	ENSP00000467329.1:p.Lys181Gln
ENST00000591849.5:c.-98-17424_-98-17422delinsCAG	ENSP00000465347.1:n.-98-17424_-98-17422delinsCAG
ENST00000618469.2:c.5068_5070delinsCAG	ENSP00000478114.2:p.Lys1690Gln
ENST00000634433.2:c.4945_4947delinsCAG	ENSP00000489431.2:p.Lys1649Gln
ENST00000644379.1:c.1455_1457delinsCAG
ENST00000644379.2:c.5134_5136delinsCAG	ENSP00000496570.2:p.Lys1712Gln
ENST00000644555.2:c.1618_1620delinsCAG	ENSP00000494614.2:p.Lys540Gln
ENST00000652672.2:c.4927_4929delinsCAG	ENSP00000498906.2:p.Lys1643Gln