Canonical Allele Identifier: CA2260777988

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082452_43082454delinsAAG , CM000679.2:g.43082452_43082454delinsAAG	GRCh38
NC_000017.10:g.41234469_41234471delinsAAG , CM000679.1:g.41234469_41234471delinsAAG	GRCh37
NC_000017.9:g.38487995_38487997delinsAAG	NCBI36
NG_005905.2:g.135530_135532delinsCTT , LRG_292:g.135530_135532delinsCTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4307_4309delinsCTT	ENSP00000417241.2:p.Ser1436=
ENST00000470026.6:c.4307_4309delinsCTT	ENSP00000419274.2:p.Ser1436=
ENST00000473961.6:c.4181_4183delinsCTT	ENSP00000420201.2:p.Ser1394=
ENST00000476777.6:c.4301_4303delinsCTT	ENSP00000417554.2:p.Ser1434=
ENST00000477152.6:c.4229_4231delinsCTT	ENSP00000419988.2:p.Ser1410=
ENST00000478531.6:c.995_997delinsCTT	ENSP00000420412.2:p.Ser332=
ENST00000489037.2:c.4229_4231delinsCTT	ENSP00000420781.2:p.Ser1410=
ENST00000493919.6:c.857_859delinsCTT	ENSP00000418819.2:p.Ser286=
ENST00000494123.6:c.4307_4309delinsCTT	ENSP00000419103.2:p.Ser1436=
ENST00000497488.2:c.3419_3421delinsCTT	ENSP00000418986.2:p.Ser1140=
ENST00000618469.2:c.4307_4309delinsCTT	ENSP00000478114.2:p.Ser1436=
ENST00000634433.2:c.4184_4186delinsCTT	ENSP00000489431.2:p.Ser1395=
ENST00000644379.2:c.4307_4309delinsCTT	ENSP00000496570.2:p.Ser1436=
ENST00000644555.2:c.857_859delinsCTT	ENSP00000494614.2:p.Ser286=
ENST00000652672.2:c.4166_4168delinsCTT	ENSP00000498906.2:p.Ser1389=
ENST00000484087.6:c.872_874delinsCTT	ENSP00000419481.2:p.Ser291=
ENST00000700182.1:c.917_919delinsCTT	ENSP00000514849.1:p.Ser306=
ENST00000357654.9:c.4307_4309delinsCTT MANE Select	ENSP00000350283.3:p.Ser1436=
ENST00000471181.7:c.4307_4309delinsCTT	ENSP00000418960.2:p.Ser1436=
ENST00000644379.1:c.628_630delinsCTT
ENST00000352993.7:c.881_883delinsCTT	ENSP00000312236.5:p.Ser294=
ENST00000357654.7:c.4307_4309delinsCTT	ENSP00000350283.3:p.Ser1436=
ENST00000461221.5:c.*4090_*4092delinsCTT	ENSP00000418548.1:n.*4090_*4092delinsCTT
ENST00000461574.1:c.601_603delinsCTT
ENST00000468300.5:c.998_1000delinsCTT	ENSP00000417148.1:p.Ser333=
ENST00000471181.6:c.4307_4309delinsCTT	ENSP00000418960.2:p.Ser1436=
ENST00000478531.5:c.995_997delinsCTT	ENSP00000420412.1:p.Ser332=
ENST00000484087.5:c.620_622delinsCTT	ENSP00000419481.1:p.Ser207=
ENST00000487825.5:c.623_625delinsCTT	ENSP00000418212.1:p.Ser208=
ENST00000491747.6:c.998_1000delinsCTT	ENSP00000420705.2:p.Ser333=
ENST00000493795.5:c.4166_4168delinsCTT	ENSP00000418775.1:p.Ser1389=
ENST00000493919.5:c.857_859delinsCTT	ENSP00000418819.1:p.Ser286=
ENST00000586385.5:c.5-18503_5-18501delinsCTT	ENSP00000465818.1:n.5-18503_5-18501delins...
ENST00000591534.5:c.-43-7933_-43-7931delinsCTT	ENSP00000467329.1:n.-43-7933_-43-7931deli...
ENST00000591849.5:c.-98-32264_-98-32262delinsCTT	ENSP00000465347.1:n.-98-32264_-98-32262de...
ENST00000621897.1:n.201_203delinsCTT
NM_007294.3:c.4307_4309delinsCTT , LRG_292t1:c.4307_4309delinsCTT	NP_009225.1:p.Ser1436=
NM_007297.3:c.4166_4168delinsCTT	NP_009228.2:p.Ser1389=
NM_007298.3:c.998_1000delinsCTT	NP_009229.2:p.Ser333=
NM_007299.3:c.998_1000delinsCTT	NP_009230.2:p.Ser333=
NM_007300.3:c.4307_4309delinsCTT	NP_009231.2:p.Ser1436=
NR_027676.1:n.4443_4445delinsCTT
NM_007294.4:c.4307_4309delinsCTT MANE Select	NP_009225.1:p.Ser1436=
NM_007297.4:c.4166_4168delinsCTT	NP_009228.2:p.Ser1389=
NM_007299.4:c.998_1000delinsCTT	NP_009230.2:p.Ser333=
NM_007300.4:c.4307_4309delinsCTT	NP_009231.2:p.Ser1436=
NR_027676.2:n.4484_4486delinsCTT