Canonical Allele Identifier: CA2260785763

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43095889_43095890delinsAG , CM000679.2:g.43095889_43095890delinsAG	GRCh38
NC_000017.10:g.41247906_41247907delinsAG , CM000679.1:g.41247906_41247907delinsAG	GRCh37
NC_000017.9:g.38501432_38501433delinsAG	NCBI36
NG_005905.2:g.122094_122095delinsCT , LRG_292:g.122094_122095delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.690_691delinsCT
ENST00000461574.2:c.626_627delinsCT	ENSP00000417241.2:p.Pro209=
ENST00000470026.6:c.626_627delinsCT	ENSP00000419274.2:p.Pro209=
ENST00000473961.6:c.545-1030_545-1029delinsCT	ENSP00000420201.2:n.545-1030_545-1029delinsCT
ENST00000476777.6:c.623_624delinsCT	ENSP00000417554.2:p.Pro208=
ENST00000477152.6:c.548_549delinsCT	ENSP00000419988.2:p.Pro183=
ENST00000478531.6:c.623_624delinsCT	ENSP00000420412.2:p.Pro208=
ENST00000489037.2:c.548_549delinsCT	ENSP00000420781.2:p.Pro183=
ENST00000493919.6:c.485_486delinsCT	ENSP00000418819.2:p.Pro162=
ENST00000494123.6:c.626_627delinsCT	ENSP00000419103.2:p.Pro209=
ENST00000497488.2:c.-218-1030_-218-1029delinsCT	ENSP00000418986.2:n.-218-1030_-218-1029delinsCT
ENST00000618469.2:c.626_627delinsCT	ENSP00000478114.2:p.Pro209=
ENST00000634433.2:c.548-1030_548-1029delinsCT	ENSP00000489431.2:n.548-1030_548-1029delinsCT
ENST00000644379.2:c.626_627delinsCT	ENSP00000496570.2:p.Pro209=
ENST00000644555.2:c.485_486delinsCT	ENSP00000494614.2:p.Pro162=
ENST00000652672.2:c.485_486delinsCT	ENSP00000498906.2:p.Pro162=
ENST00000484087.6:c.548-1030_548-1029delinsCT	ENSP00000419481.2:n.548-1030_548-1029delinsCT
ENST00000700182.1:c.545_546delinsCT	ENSP00000514849.1:p.Pro182=
ENST00000700183.1:c.*634_*635delinsCT	ENSP00000514850.1:n.*634_*635delinsCT
ENST00000357654.9:c.626_627delinsCT MANE Select	ENSP00000350283.3:p.Pro209=
ENST00000471181.7:c.626_627delinsCT	ENSP00000418960.2:p.Pro209=
ENST00000642945.1:c.*500_*501delinsCT	ENSP00000495897.1:n.*500_*501delinsCT
ENST00000652672.1:c.485_486delinsCT	ENSP00000498906.1:p.Pro162=
ENST00000352993.7:c.626_627delinsCT	ENSP00000312236.5:p.Pro209=
ENST00000354071.7:c.626_627delinsCT	ENSP00000326002.7:p.Pro209=
ENST00000357654.7:c.626_627delinsCT	ENSP00000350283.3:p.Pro209=
ENST00000461221.5:c.*409_*410delinsCT	ENSP00000418548.1:n.*409_*410delinsCT
ENST00000468300.5:c.626_627delinsCT	ENSP00000417148.1:p.Pro209=
ENST00000470026.5:c.626_627delinsCT	ENSP00000419274.1:p.Pro209=
ENST00000471181.6:c.626_627delinsCT	ENSP00000418960.2:p.Pro209=
ENST00000473961.5:c.268-1030_268-1029delinsCT
ENST00000476777.5:c.623_624delinsCT	ENSP00000417554.1:p.Pro208=
ENST00000477152.5:c.548_549delinsCT	ENSP00000419988.1:p.Pro183=
ENST00000478531.5:c.623_624delinsCT	ENSP00000420412.1:p.Pro208=
ENST00000484087.5:c.293-1030_293-1029delinsCT	ENSP00000419481.1:n.293-1030_293-1029delinsCT
ENST00000487825.5:c.296-1030_296-1029delinsCT	ENSP00000418212.1:n.296-1030_296-1029delinsCT
ENST00000491747.6:c.626_627delinsCT	ENSP00000420705.2:p.Pro209=
ENST00000492859.5:c.*562_*563delinsCT	ENSP00000420253.1:n.*562_*563delinsCT
ENST00000493795.5:c.485_486delinsCT	ENSP00000418775.1:p.Pro162=
ENST00000493919.5:c.485_486delinsCT	ENSP00000418819.1:p.Pro162=
ENST00000494123.5:c.626_627delinsCT	ENSP00000419103.1:p.Pro209=
ENST00000497488.1:c.-218-1030_-218-1029delinsCT	ENSP00000418986.1:n.-218-1030_-218-1029delinsCT
ENST00000586385.5:c.4+29292_4+29293delinsCT	ENSP00000465818.1:n.4+29292_4+29293delinsCT
ENST00000591534.5:c.-43-21369_-43-21368delinsCT	ENSP00000467329.1:n.-43-21369_-43-21368delinsCT
ENST00000591849.5:c.-99+29381_-99+29382delinsCT	ENSP00000465347.1:n.-99+29381_-99+29382delinsCT
ENST00000634433.1:c.548-1030_548-1029delinsCT	ENSP00000489431.1:n.548-1030_548-1029delinsCT
NM_007294.3:c.626_627delinsCT , LRG_292t1:c.626_627delinsCT	NP_009225.1:p.Pro209=
NM_007297.3:c.485_486delinsCT	NP_009228.2:p.Pro162=
NM_007298.3:c.626_627delinsCT	NP_009229.2:p.Pro209=
NM_007299.3:c.626_627delinsCT	NP_009230.2:p.Pro209=
NM_007300.3:c.626_627delinsCT	NP_009231.2:p.Pro209=
NR_027676.1:n.762_763delinsCT
NM_007294.4:c.626_627delinsCT MANE Select	NP_009225.1:p.Pro209=
NM_007297.4:c.485_486delinsCT	NP_009228.2:p.Pro162=
NM_007299.4:c.626_627delinsCT	NP_009230.2:p.Pro209=
NM_007300.4:c.626_627delinsCT	NP_009231.2:p.Pro209=
NR_027676.2:n.803_804delinsCT