Canonical Allele Identifier: CA2260781968

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091488_43091490delinsCCT , CM000679.2:g.43091488_43091490delinsCCT	GRCh38
NC_000017.10:g.41243505_41243507delinsCCT , CM000679.1:g.41243505_41243507delinsCCT	GRCh37
NC_000017.9:g.38497031_38497033delinsCCT	NCBI36
NG_005905.2:g.126494_126496delinsAGG , LRG_292:g.126494_126496delinsAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4105_4107delinsAGG
ENST00000461574.2:c.4041_4043delinsAGG	ENSP00000417241.2:p.Arg1347=
ENST00000470026.6:c.4041_4043delinsAGG	ENSP00000419274.2:p.Arg1347=
ENST00000473961.6:c.3915_3917delinsAGG	ENSP00000420201.2:p.Arg1305=
ENST00000476777.6:c.4038_4040delinsAGG	ENSP00000417554.2:p.Arg1346=
ENST00000477152.6:c.3963_3965delinsAGG	ENSP00000419988.2:p.Arg1321=
ENST00000478531.6:c.785-458_785-456delinsAGG	ENSP00000420412.2:n.785-458_785-456delins...
ENST00000489037.2:c.3963_3965delinsAGG	ENSP00000420781.2:p.Arg1321=
ENST00000493919.6:c.647-458_647-456delinsAGG	ENSP00000418819.2:n.647-458_647-456delins...
ENST00000494123.6:c.4041_4043delinsAGG	ENSP00000419103.2:p.Arg1347=
ENST00000497488.2:c.3153_3155delinsAGG	ENSP00000418986.2:p.Arg1051=
ENST00000618469.2:c.4041_4043delinsAGG	ENSP00000478114.2:p.Arg1347=
ENST00000634433.2:c.3918_3920delinsAGG	ENSP00000489431.2:p.Arg1306=
ENST00000644379.2:c.4041_4043delinsAGG	ENSP00000496570.2:p.Arg1347=
ENST00000644555.2:c.647-458_647-456delinsAGG	ENSP00000494614.2:n.647-458_647-456delins...
ENST00000652672.2:c.3900_3902delinsAGG	ENSP00000498906.2:p.Arg1300=
ENST00000484087.6:c.665-458_665-456delinsAGG	ENSP00000419481.2:n.665-458_665-456delins...
ENST00000700182.1:c.707-458_707-456delinsAGG	ENSP00000514849.1:n.707-458_707-456delins...
ENST00000357654.9:c.4041_4043delinsAGG MANE Select	ENSP00000350283.3:p.Arg1347=
ENST00000471181.7:c.4041_4043delinsAGG	ENSP00000418960.2:p.Arg1347=
ENST00000644379.1:c.362_364delinsAGG
ENST00000352993.7:c.671-458_671-456delinsAGG	ENSP00000312236.5:n.671-458_671-456delins...
ENST00000354071.7:c.4041_4043delinsAGG	ENSP00000326002.7:p.Arg1347=
ENST00000357654.7:c.4041_4043delinsAGG	ENSP00000350283.3:p.Arg1347=
ENST00000461221.5:c.*3824_*3826delinsAGG	ENSP00000418548.1:n.*3824_*3826delinsAGG
ENST00000461574.1:c.335_337delinsAGG
ENST00000468300.5:c.788-458_788-456delinsAGG	ENSP00000417148.1:n.788-458_788-456delins...
ENST00000471181.6:c.4041_4043delinsAGG	ENSP00000418960.2:p.Arg1347=
ENST00000478531.5:c.785-458_785-456delinsAGG	ENSP00000420412.1:n.785-458_785-456delins...
ENST00000484087.5:c.410-458_410-456delinsAGG	ENSP00000419481.1:n.410-458_410-456delins...
ENST00000487825.5:c.413-458_413-456delinsAGG	ENSP00000418212.1:n.413-458_413-456delins...
ENST00000491747.6:c.788-458_788-456delinsAGG	ENSP00000420705.2:n.788-458_788-456delins...
ENST00000493795.5:c.3900_3902delinsAGG	ENSP00000418775.1:p.Arg1300=
ENST00000493919.5:c.647-458_647-456delinsAGG	ENSP00000418819.1:n.647-458_647-456delins...
ENST00000586385.5:c.5-27539_5-27537delinsAGG	ENSP00000465818.1:n.5-27539_5-27537delins...
ENST00000591534.5:c.-43-16969_-43-16967delinsAGG	ENSP00000467329.1:n.-43-16969_-43-16967de...
ENST00000591849.5:c.-99+33781_-99+33783delinsAGG	ENSP00000465347.1:n.-99+33781_-99+33783de...
NM_007294.3:c.4041_4043delinsAGG , LRG_292t1:c.4041_4043delinsAGG	NP_009225.1:p.Arg1347=
NM_007297.3:c.3900_3902delinsAGG	NP_009228.2:p.Arg1300=
NM_007298.3:c.788-458_788-456delinsAGG	NP_009229.2:n.788-458_788-456delinsAGG
NM_007299.3:c.788-458_788-456delinsAGG	NP_009230.2:n.788-458_788-456delinsAGG
NM_007300.3:c.4041_4043delinsAGG	NP_009231.2:p.Arg1347=
NR_027676.1:n.4177_4179delinsAGG
NM_007294.4:c.4041_4043delinsAGG MANE Select	NP_009225.1:p.Arg1347=
NM_007297.4:c.3900_3902delinsAGG	NP_009228.2:p.Arg1300=
NM_007299.4:c.788-458_788-456delinsAGG	NP_009230.2:n.788-458_788-456delinsAGG
NM_007300.4:c.4041_4043delinsAGG	NP_009231.2:p.Arg1347=
NR_027676.2:n.4218_4220delinsAGG