Canonical Allele Identifier: CA2260783968

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093441_43093445delinsAAAGT , CM000679.2:g.43093441_43093445delinsAAAGT	GRCh38
NC_000017.10:g.41245458_41245462delinsAAAGT , CM000679.1:g.41245458_41245462delinsAAAGT	GRCh37
NC_000017.9:g.38498984_38498988delinsAAAGT	NCBI36
NG_005905.2:g.124539_124543delinsACTTT , LRG_292:g.124539_124543delinsACTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2150_2154delinsACTTT
ENST00000461574.2:c.2086_2090delinsACTTT	ENSP00000417241.2:p.Thr696=
ENST00000470026.6:c.2086_2090delinsACTTT	ENSP00000419274.2:p.Thr696=
ENST00000473961.6:c.1960_1964delinsACTTT	ENSP00000420201.2:p.Thr654=
ENST00000476777.6:c.2083_2087delinsACTTT	ENSP00000417554.2:p.Thr695=
ENST00000477152.6:c.2008_2012delinsACTTT	ENSP00000419988.2:p.Thr670=
ENST00000478531.6:c.784+1299_784+1303delinsACTTT	ENSP00000420412.2:n.784+1299_784+1303delinsACTTT
ENST00000489037.2:c.2008_2012delinsACTTT	ENSP00000420781.2:p.Thr670=
ENST00000493919.6:c.646+1299_646+1303delinsACTTT	ENSP00000418819.2:n.646+1299_646+1303delinsACTTT
ENST00000494123.6:c.2086_2090delinsACTTT	ENSP00000419103.2:p.Thr696=
ENST00000497488.2:c.1198_1202delinsACTTT	ENSP00000418986.2:p.Thr400=
ENST00000618469.2:c.2086_2090delinsACTTT	ENSP00000478114.2:p.Thr696=
ENST00000634433.2:c.1963_1967delinsACTTT	ENSP00000489431.2:p.Thr655=
ENST00000644379.2:c.2086_2090delinsACTTT	ENSP00000496570.2:p.Thr696=
ENST00000644555.2:c.646+1299_646+1303delinsACTTT	ENSP00000494614.2:n.646+1299_646+1303delinsACTTT
ENST00000652672.2:c.1945_1949delinsACTTT	ENSP00000498906.2:p.Thr649=
ENST00000484087.6:c.664+1299_664+1303delinsACTTT	ENSP00000419481.2:n.664+1299_664+1303delinsACTTT
ENST00000700182.1:c.706+1299_706+1303delinsACTTT	ENSP00000514849.1:n.706+1299_706+1303delinsACTTT
ENST00000357654.9:c.2086_2090delinsACTTT MANE Select	ENSP00000350283.3:p.Thr696=
ENST00000471181.7:c.2086_2090delinsACTTT	ENSP00000418960.2:p.Thr696=
ENST00000352993.7:c.670+2401_670+2405delinsACTTT	ENSP00000312236.5:n.670+2401_670+2405delinsACTTT
ENST00000354071.7:c.2086_2090delinsACTTT	ENSP00000326002.7:p.Thr696=
ENST00000357654.7:c.2086_2090delinsACTTT	ENSP00000350283.3:p.Thr696=
ENST00000461221.5:c.*1869_*1873delinsACTTT	ENSP00000418548.1:n.*1869_*1873delinsACTTT
ENST00000468300.5:c.787+1299_787+1303delinsACTTT	ENSP00000417148.1:n.787+1299_787+1303delinsACTTT
ENST00000471181.6:c.2086_2090delinsACTTT	ENSP00000418960.2:p.Thr696=
ENST00000478531.5:c.784+1299_784+1303delinsACTTT	ENSP00000420412.1:n.784+1299_784+1303delinsACTTT
ENST00000484087.5:c.409+1299_409+1303delinsACTTT	ENSP00000419481.1:n.409+1299_409+1303delinsACTTT
ENST00000487825.5:c.412+1299_412+1303delinsACTTT	ENSP00000418212.1:n.412+1299_412+1303delinsACTTT
ENST00000491747.6:c.787+1299_787+1303delinsACTTT	ENSP00000420705.2:n.787+1299_787+1303delinsACTTT
ENST00000493795.5:c.1945_1949delinsACTTT	ENSP00000418775.1:p.Thr649=
ENST00000493919.5:c.646+1299_646+1303delinsACTTT	ENSP00000418819.1:n.646+1299_646+1303delinsACTTT
ENST00000586385.5:c.5-29494_5-29490delinsACTTT	ENSP00000465818.1:n.5-29494_5-29490delinsACTTT
ENST00000591534.5:c.-43-18924_-43-18920delinsACTTT	ENSP00000467329.1:n.-43-18924_-43-18920delinsACTTT
ENST00000591849.5:c.-99+31826_-99+31830delinsACTTT	ENSP00000465347.1:n.-99+31826_-99+31830delinsACTTT
ENST00000634433.1:c.1963_1967delinsACTTT	ENSP00000489431.1:p.Thr655=
NM_007294.3:c.2086_2090delinsACTTT , LRG_292t1:c.2086_2090delinsACTTT	NP_009225.1:p.Thr696=
NM_007297.3:c.1945_1949delinsACTTT	NP_009228.2:p.Thr649=
NM_007298.3:c.787+1299_787+1303delinsACTTT	NP_009229.2:n.787+1299_787+1303delinsACTTT
NM_007299.3:c.787+1299_787+1303delinsACTTT	NP_009230.2:n.787+1299_787+1303delinsACTTT
NM_007300.3:c.2086_2090delinsACTTT	NP_009231.2:p.Thr696=
NR_027676.1:n.2222_2226delinsACTTT
NM_007294.4:c.2086_2090delinsACTTT MANE Select	NP_009225.1:p.Thr696=
NM_007297.4:c.1945_1949delinsACTTT	NP_009228.2:p.Thr649=
NM_007299.4:c.787+1299_787+1303delinsACTTT	NP_009230.2:n.787+1299_787+1303delinsACTTT
NM_007300.4:c.2086_2090delinsACTTT	NP_009231.2:p.Thr696=
NR_027676.2:n.2263_2267delinsACTTT