Canonical Allele Identifier: CA2523951672

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067700_43067701insCTGC , CM000679.2:g.43067700_43067701insCTGC	GRCh38
NC_000017.10:g.41219717_41219718insCTGC , CM000679.1:g.41219717_41219718insCTGC	GRCh37
NC_000017.9:g.38473243_38473244insCTGC	NCBI36
NG_005905.2:g.150283_150284insGCAG , LRG_292:g.150283_150284insGCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4984-6_4984-5insGCAG	ENSP00000417241.2:n.4984-6_4984-5insGCAG
ENST00000470026.6:c.4987-6_4987-5insGCAG	ENSP00000419274.2:n.4987-6_4987-5insGCAG
ENST00000473961.6:c.4861-6_4861-5insGCAG	ENSP00000420201.2:n.4861-6_4861-5insGCAG
ENST00000476777.6:c.4981-6_4981-5insGCAG	ENSP00000417554.2:n.4981-6_4981-5insGCAG
ENST00000477152.6:c.4909-6_4909-5insGCAG	ENSP00000419988.2:n.4909-6_4909-5insGCAG
ENST00000478531.6:c.1675-6_1675-5insGCAG	ENSP00000420412.2:n.1675-6_1675-5insGCAG
ENST00000489037.2:c.4909-6_4909-5insGCAG	ENSP00000420781.2:n.4909-6_4909-5insGCAG
ENST00000493919.6:c.1537-6_1537-5insGCAG	ENSP00000418819.2:n.1537-6_1537-5insGCAG
ENST00000494123.6:c.4987-6_4987-5insGCAG	ENSP00000419103.2:n.4987-6_4987-5insGCAG
ENST00000497488.2:c.4099-6_4099-5insGCAG	ENSP00000418986.2:n.4099-6_4099-5insGCAG
ENST00000618469.2:c.4987-6_4987-5insGCAG	ENSP00000478114.2:n.4987-6_4987-5insGCAG
ENST00000634433.2:c.4864-6_4864-5insGCAG	ENSP00000489431.2:n.4864-6_4864-5insGCAG
ENST00000644379.2:c.5053-6_5053-5insGCAG	ENSP00000496570.2:n.5053-6_5053-5insGCAG
ENST00000644555.2:c.1537-6_1537-5insGCAG	ENSP00000494614.2:n.1537-6_1537-5insGCAG
ENST00000652672.2:c.4846-6_4846-5insGCAG	ENSP00000498906.2:n.4846-6_4846-5insGCAG
ENST00000484087.6:c.1549-6_1549-5insGCAG	ENSP00000419481.2:n.1549-6_1549-5insGCAG
ENST00000357654.9:c.4987-6_4987-5insGCAG MANE Select	ENSP00000350283.3:n.4987-6_4987-5insGCAG
ENST00000471181.7:c.5050-6_5050-5insGCAG	ENSP00000418960.2:n.5050-6_5050-5insGCAG
ENST00000644379.1:c.1374-6_1374-5insGCAG
ENST00000352993.7:c.1561-6_1561-5insGCAG	ENSP00000312236.5:n.1561-6_1561-5insGCAG
ENST00000357654.7:c.4987-6_4987-5insGCAG	ENSP00000350283.3:n.4987-6_4987-5insGCAG
ENST00000461221.5:c.*4770-6_*4770-5insGCAG	ENSP00000418548.1:n.*4770-6_*4770-5insGCAG
ENST00000468300.5:c.1675-6_1675-5insGCAG	ENSP00000417148.1:n.1675-6_1675-5insGCAG
ENST00000471181.6:c.5050-6_5050-5insGCAG	ENSP00000418960.2:n.5050-6_5050-5insGCAG
ENST00000472490.1:n.140-6_140-5insGCAG
ENST00000478531.5:c.1675-6_1675-5insGCAG	ENSP00000420412.1:n.1675-6_1675-5insGCAG
ENST00000484087.5:c.1300-6_1300-5insGCAG	ENSP00000419481.1:n.1300-6_1300-5insGCAG
ENST00000491747.6:c.1675-6_1675-5insGCAG	ENSP00000420705.2:n.1675-6_1675-5insGCAG
ENST00000493795.5:c.4846-6_4846-5insGCAG	ENSP00000418775.1:n.4846-6_4846-5insGCAG
ENST00000493919.5:c.1537-6_1537-5insGCAG	ENSP00000418819.1:n.1537-6_1537-5insGCAG
ENST00000586385.5:c.5-3750_5-3749insGCAG	ENSP00000465818.1:n.5-3750_5-3749insGCAG
ENST00000591534.5:c.460-6_460-5insGCAG	ENSP00000467329.1:n.460-6_460-5insGCAG
ENST00000591849.5:c.-98-17511_-98-17510insGCAG	ENSP00000465347.1:n.-98-17511_-98-17510insGCAG
NM_007294.3:c.4987-6_4987-5insGCAG , LRG_292t1:c.4987-6_4987-5insGCAG	NP_009225.1:n.4987-6_4987-5insGCAG
NM_007297.3:c.4846-6_4846-5insGCAG	NP_009228.2:n.4846-6_4846-5insGCAG
NM_007298.3:c.1675-6_1675-5insGCAG	NP_009229.2:n.1675-6_1675-5insGCAG
NM_007299.3:c.1675-6_1675-5insGCAG	NP_009230.2:n.1675-6_1675-5insGCAG
NM_007300.3:c.5050-6_5050-5insGCAG	NP_009231.2:n.5050-6_5050-5insGCAG
NR_027676.1:n.5123-6_5123-5insGCAG
NM_007294.4:c.4987-6_4987-5insGCAG MANE Select	NP_009225.1:n.4987-6_4987-5insGCAG
NM_007297.4:c.4846-6_4846-5insGCAG	NP_009228.2:n.4846-6_4846-5insGCAG
NM_007299.4:c.1675-6_1675-5insGCAG	NP_009230.2:n.1675-6_1675-5insGCAG
NM_007300.4:c.5050-6_5050-5insGCAG	NP_009231.2:n.5050-6_5050-5insGCAG
NR_027676.2:n.5164-6_5164-5insGCAG