Canonical Allele Identifier: CA2260777974

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082436_43082437delinsAG , CM000679.2:g.43082436_43082437delinsAG	GRCh38
NC_000017.10:g.41234453_41234454delinsAG , CM000679.1:g.41234453_41234454delinsAG	GRCh37
NC_000017.9:g.38487979_38487980delinsAG	NCBI36
NG_005905.2:g.135547_135548delinsCT , LRG_292:g.135547_135548delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4324_4325delinsCT	ENSP00000417241.2:p.Leu1442=
ENST00000470026.6:c.4324_4325delinsCT	ENSP00000419274.2:p.Leu1442=
ENST00000473961.6:c.4198_4199delinsCT	ENSP00000420201.2:p.Leu1400=
ENST00000476777.6:c.4318_4319delinsCT	ENSP00000417554.2:p.Leu1440=
ENST00000477152.6:c.4246_4247delinsCT	ENSP00000419988.2:p.Leu1416=
ENST00000478531.6:c.1012_1013delinsCT	ENSP00000420412.2:p.Leu338=
ENST00000489037.2:c.4246_4247delinsCT	ENSP00000420781.2:p.Leu1416=
ENST00000493919.6:c.874_875delinsCT	ENSP00000418819.2:p.Leu292=
ENST00000494123.6:c.4324_4325delinsCT	ENSP00000419103.2:p.Leu1442=
ENST00000497488.2:c.3436_3437delinsCT	ENSP00000418986.2:p.Leu1146=
ENST00000618469.2:c.4324_4325delinsCT	ENSP00000478114.2:p.Leu1442=
ENST00000634433.2:c.4201_4202delinsCT	ENSP00000489431.2:p.Leu1401=
ENST00000644379.2:c.4324_4325delinsCT	ENSP00000496570.2:p.Leu1442=
ENST00000644555.2:c.874_875delinsCT	ENSP00000494614.2:p.Leu292=
ENST00000652672.2:c.4183_4184delinsCT	ENSP00000498906.2:p.Leu1395=
ENST00000484087.6:c.889_890delinsCT	ENSP00000419481.2:p.Leu297=
ENST00000700182.1:c.934_935delinsCT	ENSP00000514849.1:p.Leu312=
ENST00000357654.9:c.4324_4325delinsCT MANE Select	ENSP00000350283.3:p.Leu1442=
ENST00000471181.7:c.4324_4325delinsCT	ENSP00000418960.2:p.Leu1442=
ENST00000644379.1:c.645_646delinsCT
ENST00000352993.7:c.898_899delinsCT	ENSP00000312236.5:p.Leu300=
ENST00000357654.7:c.4324_4325delinsCT	ENSP00000350283.3:p.Leu1442=
ENST00000461221.5:c.*4107_*4108delinsCT	ENSP00000418548.1:n.*4107_*4108delinsCT
ENST00000461574.1:c.618_619delinsCT
ENST00000468300.5:c.1015_1016delinsCT	ENSP00000417148.1:p.Leu339=
ENST00000471181.6:c.4324_4325delinsCT	ENSP00000418960.2:p.Leu1442=
ENST00000478531.5:c.1012_1013delinsCT	ENSP00000420412.1:p.Leu338=
ENST00000484087.5:c.637_638delinsCT	ENSP00000419481.1:p.Leu213=
ENST00000487825.5:c.640_641delinsCT	ENSP00000418212.1:p.Leu214=
ENST00000491747.6:c.1015_1016delinsCT	ENSP00000420705.2:p.Leu339=
ENST00000493795.5:c.4183_4184delinsCT	ENSP00000418775.1:p.Leu1395=
ENST00000493919.5:c.874_875delinsCT	ENSP00000418819.1:p.Leu292=
ENST00000586385.5:c.5-18486_5-18485delinsCT	ENSP00000465818.1:n.5-18486_5-18485delins...
ENST00000591534.5:c.-43-7916_-43-7915delinsCT	ENSP00000467329.1:n.-43-7916_-43-7915deli...
ENST00000591849.5:c.-98-32247_-98-32246delinsCT	ENSP00000465347.1:n.-98-32247_-98-32246de...
ENST00000621897.1:n.218_219delinsCT
NM_007294.3:c.4324_4325delinsCT , LRG_292t1:c.4324_4325delinsCT	NP_009225.1:p.Leu1442=
NM_007297.3:c.4183_4184delinsCT	NP_009228.2:p.Leu1395=
NM_007298.3:c.1015_1016delinsCT	NP_009229.2:p.Leu339=
NM_007299.3:c.1015_1016delinsCT	NP_009230.2:p.Leu339=
NM_007300.3:c.4324_4325delinsCT	NP_009231.2:p.Leu1442=
NR_027676.1:n.4460_4461delinsCT
NM_007294.4:c.4324_4325delinsCT MANE Select	NP_009225.1:p.Leu1442=
NM_007297.4:c.4183_4184delinsCT	NP_009228.2:p.Leu1395=
NM_007299.4:c.1015_1016delinsCT	NP_009230.2:p.Leu339=
NM_007300.4:c.4324_4325delinsCT	NP_009231.2:p.Leu1442=
NR_027676.2:n.4501_4502delinsCT