Canonical Allele Identifier: CA2260781969

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091489_43091493delinsCTCTT , CM000679.2:g.43091489_43091493delinsCTCTT	GRCh38
NC_000017.10:g.41243506_41243510delinsCTCTT , CM000679.1:g.41243506_41243510delinsCTCTT	GRCh37
NC_000017.9:g.38497032_38497036delinsCTCTT	NCBI36
NG_005905.2:g.126491_126495delinsAAGAG , LRG_292:g.126491_126495delinsAAGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4102_4106delinsAAGAG
ENST00000461574.2:c.4038_4042delinsAAGAG	ENSP00000417241.2:p.Glu1346=
ENST00000470026.6:c.4038_4042delinsAAGAG	ENSP00000419274.2:p.Glu1346=
ENST00000473961.6:c.3912_3916delinsAAGAG	ENSP00000420201.2:p.Glu1304=
ENST00000476777.6:c.4035_4039delinsAAGAG	ENSP00000417554.2:p.Glu1345=
ENST00000477152.6:c.3960_3964delinsAAGAG	ENSP00000419988.2:p.Glu1320=
ENST00000478531.6:c.785-461_785-457delinsAAGAG	ENSP00000420412.2:n.785-461_785-457delins...
ENST00000489037.2:c.3960_3964delinsAAGAG	ENSP00000420781.2:p.Glu1320=
ENST00000493919.6:c.647-461_647-457delinsAAGAG	ENSP00000418819.2:n.647-461_647-457delins...
ENST00000494123.6:c.4038_4042delinsAAGAG	ENSP00000419103.2:p.Glu1346=
ENST00000497488.2:c.3150_3154delinsAAGAG	ENSP00000418986.2:p.Glu1050=
ENST00000618469.2:c.4038_4042delinsAAGAG	ENSP00000478114.2:p.Glu1346=
ENST00000634433.2:c.3915_3919delinsAAGAG	ENSP00000489431.2:p.Glu1305=
ENST00000644379.2:c.4038_4042delinsAAGAG	ENSP00000496570.2:p.Glu1346=
ENST00000644555.2:c.647-461_647-457delinsAAGAG	ENSP00000494614.2:n.647-461_647-457delins...
ENST00000652672.2:c.3897_3901delinsAAGAG	ENSP00000498906.2:p.Glu1299=
ENST00000484087.6:c.665-461_665-457delinsAAGAG	ENSP00000419481.2:n.665-461_665-457delins...
ENST00000700182.1:c.707-461_707-457delinsAAGAG	ENSP00000514849.1:n.707-461_707-457delins...
ENST00000357654.9:c.4038_4042delinsAAGAG MANE Select	ENSP00000350283.3:p.Glu1346=
ENST00000471181.7:c.4038_4042delinsAAGAG	ENSP00000418960.2:p.Glu1346=
ENST00000644379.1:c.359_363delinsAAGAG
ENST00000352993.7:c.671-461_671-457delinsAAGAG	ENSP00000312236.5:n.671-461_671-457delins...
ENST00000354071.7:c.4038_4042delinsAAGAG	ENSP00000326002.7:p.Glu1346=
ENST00000357654.7:c.4038_4042delinsAAGAG	ENSP00000350283.3:p.Glu1346=
ENST00000461221.5:c.*3821_*3825delinsAAGAG	ENSP00000418548.1:n.*3821_*3825delinsAAGA...
ENST00000461574.1:c.332_336delinsAAGAG
ENST00000468300.5:c.788-461_788-457delinsAAGAG	ENSP00000417148.1:n.788-461_788-457delins...
ENST00000471181.6:c.4038_4042delinsAAGAG	ENSP00000418960.2:p.Glu1346=
ENST00000478531.5:c.785-461_785-457delinsAAGAG	ENSP00000420412.1:n.785-461_785-457delins...
ENST00000484087.5:c.410-461_410-457delinsAAGAG	ENSP00000419481.1:n.410-461_410-457delins...
ENST00000487825.5:c.413-461_413-457delinsAAGAG	ENSP00000418212.1:n.413-461_413-457delins...
ENST00000491747.6:c.788-461_788-457delinsAAGAG	ENSP00000420705.2:n.788-461_788-457delins...
ENST00000493795.5:c.3897_3901delinsAAGAG	ENSP00000418775.1:p.Glu1299=
ENST00000493919.5:c.647-461_647-457delinsAAGAG	ENSP00000418819.1:n.647-461_647-457delins...
ENST00000586385.5:c.5-27542_5-27538delinsAAGAG	ENSP00000465818.1:n.5-27542_5-27538delins...
ENST00000591534.5:c.-43-16972_-43-16968delinsAAGAG	ENSP00000467329.1:n.-43-16972_-43-16968de...
ENST00000591849.5:c.-99+33778_-99+33782delinsAAGAG	ENSP00000465347.1:n.-99+33778_-99+33782de...
NM_007294.3:c.4038_4042delinsAAGAG , LRG_292t1:c.4038_4042delinsAAGAG	NP_009225.1:p.Glu1346=
NM_007297.3:c.3897_3901delinsAAGAG	NP_009228.2:p.Glu1299=
NM_007298.3:c.788-461_788-457delinsAAGAG	NP_009229.2:n.788-461_788-457delinsAAGAG
NM_007299.3:c.788-461_788-457delinsAAGAG	NP_009230.2:n.788-461_788-457delinsAAGAG
NM_007300.3:c.4038_4042delinsAAGAG	NP_009231.2:p.Glu1346=
NR_027676.1:n.4174_4178delinsAAGAG
NM_007294.4:c.4038_4042delinsAAGAG MANE Select	NP_009225.1:p.Glu1346=
NM_007297.4:c.3897_3901delinsAAGAG	NP_009228.2:p.Glu1299=
NM_007299.4:c.788-461_788-457delinsAAGAG	NP_009230.2:n.788-461_788-457delinsAAGAG
NM_007300.4:c.4038_4042delinsAAGAG	NP_009231.2:p.Glu1346=
NR_027676.2:n.4215_4219delinsAAGAG