Canonical Allele Identifier: CA2260784909

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094418_43094419delinsAG , CM000679.2:g.43094418_43094419delinsAG	GRCh38
NC_000017.10:g.41246435_41246436delinsAG , CM000679.1:g.41246435_41246436delinsAG	GRCh37
NC_000017.9:g.38499961_38499962delinsAG	NCBI36
NG_005905.2:g.123565_123566delinsCT , LRG_292:g.123565_123566delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1176_1177delinsCT
ENST00000461574.2:c.1112_1113delinsCT	ENSP00000417241.2:p.Pro371=
ENST00000470026.6:c.1112_1113delinsCT	ENSP00000419274.2:p.Pro371=
ENST00000473961.6:c.986_987delinsCT	ENSP00000420201.2:p.Pro329=
ENST00000476777.6:c.1109_1110delinsCT	ENSP00000417554.2:p.Pro370=
ENST00000477152.6:c.1034_1035delinsCT	ENSP00000419988.2:p.Pro345=
ENST00000478531.6:c.784+325_784+326delinsCT	ENSP00000420412.2:n.784+325_784+326delinsCT
ENST00000489037.2:c.1034_1035delinsCT	ENSP00000420781.2:p.Pro345=
ENST00000493919.6:c.646+325_646+326delinsCT	ENSP00000418819.2:n.646+325_646+326delinsCT
ENST00000494123.6:c.1112_1113delinsCT	ENSP00000419103.2:p.Pro371=
ENST00000497488.2:c.224_225delinsCT	ENSP00000418986.2:p.Pro75=
ENST00000618469.2:c.1112_1113delinsCT	ENSP00000478114.2:p.Pro371=
ENST00000634433.2:c.989_990delinsCT	ENSP00000489431.2:p.Pro330=
ENST00000644379.2:c.1112_1113delinsCT	ENSP00000496570.2:p.Pro371=
ENST00000644555.2:c.646+325_646+326delinsCT	ENSP00000494614.2:n.646+325_646+326delinsCT
ENST00000652672.2:c.971_972delinsCT	ENSP00000498906.2:p.Pro324=
ENST00000484087.6:c.664+325_664+326delinsCT	ENSP00000419481.2:n.664+325_664+326delinsCT
ENST00000700182.1:c.706+325_706+326delinsCT	ENSP00000514849.1:n.706+325_706+326delinsCT
ENST00000700183.1:c.*1120_*1121delinsCT	ENSP00000514850.1:n.*1120_*1121delinsCT
ENST00000357654.9:c.1112_1113delinsCT MANE Select	ENSP00000350283.3:p.Pro371=
ENST00000471181.7:c.1112_1113delinsCT	ENSP00000418960.2:p.Pro371=
ENST00000652672.1:c.971_972delinsCT	ENSP00000498906.1:p.Pro324=
ENST00000352993.7:c.670+1427_670+1428delinsCT	ENSP00000312236.5:n.670+1427_670+1428delinsCT
ENST00000354071.7:c.1112_1113delinsCT	ENSP00000326002.7:p.Pro371=
ENST00000357654.7:c.1112_1113delinsCT	ENSP00000350283.3:p.Pro371=
ENST00000412061.3:c.463_464delinsCT
ENST00000461221.5:c.*895_*896delinsCT	ENSP00000418548.1:n.*895_*896delinsCT
ENST00000468300.5:c.787+325_787+326delinsCT	ENSP00000417148.1:n.787+325_787+326delinsCT
ENST00000470026.5:c.1112_1113delinsCT	ENSP00000419274.1:p.Pro371=
ENST00000471181.6:c.1112_1113delinsCT	ENSP00000418960.2:p.Pro371=
ENST00000473961.5:c.709_710delinsCT
ENST00000477152.5:c.1034_1035delinsCT	ENSP00000419988.1:p.Pro345=
ENST00000478531.5:c.784+325_784+326delinsCT	ENSP00000420412.1:n.784+325_784+326delinsCT
ENST00000484087.5:c.409+325_409+326delinsCT	ENSP00000419481.1:n.409+325_409+326delinsCT
ENST00000487825.5:c.412+325_412+326delinsCT	ENSP00000418212.1:n.412+325_412+326delinsCT
ENST00000491747.6:c.787+325_787+326delinsCT	ENSP00000420705.2:n.787+325_787+326delinsCT
ENST00000492859.5:c.*1048_*1049delinsCT	ENSP00000420253.1:n.*1048_*1049delinsCT
ENST00000493795.5:c.971_972delinsCT	ENSP00000418775.1:p.Pro324=
ENST00000493919.5:c.646+325_646+326delinsCT	ENSP00000418819.1:n.646+325_646+326delinsCT
ENST00000494123.5:c.1112_1113delinsCT	ENSP00000419103.1:p.Pro371=
ENST00000497488.1:c.224_225delinsCT	ENSP00000418986.1:p.Pro75=
ENST00000586385.5:c.5-30468_5-30467delinsCT	ENSP00000465818.1:n.5-30468_5-30467delinsCT
ENST00000591534.5:c.-43-19898_-43-19897delinsCT	ENSP00000467329.1:n.-43-19898_-43-19897delinsCT
ENST00000591849.5:c.-99+30852_-99+30853delinsCT	ENSP00000465347.1:n.-99+30852_-99+30853delinsCT
ENST00000634433.1:c.989_990delinsCT	ENSP00000489431.1:p.Pro330=
NM_007294.3:c.1112_1113delinsCT , LRG_292t1:c.1112_1113delinsCT	NP_009225.1:p.Pro371=
NM_007297.3:c.971_972delinsCT	NP_009228.2:p.Pro324=
NM_007298.3:c.787+325_787+326delinsCT	NP_009229.2:n.787+325_787+326delinsCT
NM_007299.3:c.787+325_787+326delinsCT	NP_009230.2:n.787+325_787+326delinsCT
NM_007300.3:c.1112_1113delinsCT	NP_009231.2:p.Pro371=
NR_027676.1:n.1248_1249delinsCT
NM_007294.4:c.1112_1113delinsCT MANE Select	NP_009225.1:p.Pro371=
NM_007297.4:c.971_972delinsCT	NP_009228.2:p.Pro324=
NM_007299.4:c.787+325_787+326delinsCT	NP_009230.2:n.787+325_787+326delinsCT
NM_007300.4:c.1112_1113delinsCT	NP_009231.2:p.Pro371=
NR_027676.2:n.1289_1290delinsCT