Canonical Allele Identifier: CA2260781710

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091015_43091016delinsAC , CM000679.2:g.43091015_43091016delinsAC	GRCh38
NC_000017.10:g.41243032_41243033delinsAC , CM000679.1:g.41243032_41243033delinsAC	GRCh37
NC_000017.9:g.38496558_38496559delinsAC	NCBI36
NG_005905.2:g.126968_126969delinsGT , LRG_292:g.126968_126969delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4113_4114delinsGT	ENSP00000417241.2:p.Gly1371=
ENST00000470026.6:c.4113_4114delinsGT	ENSP00000419274.2:p.Gly1371=
ENST00000473961.6:c.3987_3988delinsGT	ENSP00000420201.2:p.Gly1329=
ENST00000476777.6:c.4110_4111delinsGT	ENSP00000417554.2:p.Gly1370=
ENST00000477152.6:c.4035_4036delinsGT	ENSP00000419988.2:p.Gly1345=
ENST00000478531.6:c.801_802delinsGT	ENSP00000420412.2:p.Gly267=
ENST00000489037.2:c.4035_4036delinsGT	ENSP00000420781.2:p.Gly1345=
ENST00000493919.6:c.663_664delinsGT	ENSP00000418819.2:p.Gly221=
ENST00000494123.6:c.4113_4114delinsGT	ENSP00000419103.2:p.Gly1371=
ENST00000497488.2:c.3225_3226delinsGT	ENSP00000418986.2:p.Gly1075=
ENST00000618469.2:c.4113_4114delinsGT	ENSP00000478114.2:p.Gly1371=
ENST00000634433.2:c.3990_3991delinsGT	ENSP00000489431.2:p.Gly1330=
ENST00000644379.2:c.4113_4114delinsGT	ENSP00000496570.2:p.Gly1371=
ENST00000644555.2:c.663_664delinsGT	ENSP00000494614.2:p.Gly221=
ENST00000652672.2:c.3972_3973delinsGT	ENSP00000498906.2:p.Gly1324=
ENST00000484087.6:c.681_682delinsGT	ENSP00000419481.2:p.Gly227=
ENST00000700182.1:c.723_724delinsGT	ENSP00000514849.1:p.Gly241=
ENST00000357654.9:c.4113_4114delinsGT MANE Select	ENSP00000350283.3:p.Gly1371=
ENST00000471181.7:c.4113_4114delinsGT	ENSP00000418960.2:p.Gly1371=
ENST00000644379.1:c.434_435delinsGT
ENST00000352993.7:c.687_688delinsGT	ENSP00000312236.5:p.Gly229=
ENST00000357654.7:c.4113_4114delinsGT	ENSP00000350283.3:p.Gly1371=
ENST00000461221.5:c.*3896_*3897delinsGT	ENSP00000418548.1:n.*3896_*3897delinsGT
ENST00000461574.1:c.407_408delinsGT
ENST00000468300.5:c.804_805delinsGT	ENSP00000417148.1:p.Gly268=
ENST00000471181.6:c.4113_4114delinsGT	ENSP00000418960.2:p.Gly1371=
ENST00000478531.5:c.801_802delinsGT	ENSP00000420412.1:p.Gly267=
ENST00000484087.5:c.426_427delinsGT	ENSP00000419481.1:p.Gly142=
ENST00000487825.5:c.429_430delinsGT	ENSP00000418212.1:p.Gly143=
ENST00000491747.6:c.804_805delinsGT	ENSP00000420705.2:p.Gly268=
ENST00000493795.5:c.3972_3973delinsGT	ENSP00000418775.1:p.Gly1324=
ENST00000493919.5:c.663_664delinsGT	ENSP00000418819.1:p.Gly221=
ENST00000586385.5:c.5-27065_5-27064delinsGT	ENSP00000465818.1:n.5-27065_5-27064delinsGT
ENST00000591534.5:c.-43-16495_-43-16494delinsGT	ENSP00000467329.1:n.-43-16495_-43-16494delinsGT
ENST00000591849.5:c.-99+34255_-99+34256delinsGT	ENSP00000465347.1:n.-99+34255_-99+34256delinsGT
NM_007294.3:c.4113_4114delinsGT , LRG_292t1:c.4113_4114delinsGT	NP_009225.1:p.Gly1371=
NM_007297.3:c.3972_3973delinsGT	NP_009228.2:p.Gly1324=
NM_007298.3:c.804_805delinsGT	NP_009229.2:p.Gly268=
NM_007299.3:c.804_805delinsGT	NP_009230.2:p.Gly268=
NM_007300.3:c.4113_4114delinsGT	NP_009231.2:p.Gly1371=
NR_027676.1:n.4249_4250delinsGT
NM_007294.4:c.4113_4114delinsGT MANE Select	NP_009225.1:p.Gly1371=
NM_007297.4:c.3972_3973delinsGT	NP_009228.2:p.Gly1324=
NM_007299.4:c.804_805delinsGT	NP_009230.2:p.Gly268=
NM_007300.4:c.4113_4114delinsGT	NP_009231.2:p.Gly1371=
NR_027676.2:n.4290_4291delinsGT