Canonical Allele Identifier: CA2521062215

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067852_43067853insA , CM000679.2:g.43067852_43067853insA	GRCh38
NC_000017.10:g.41219869_41219870insA , CM000679.1:g.41219869_41219870insA	GRCh37
NC_000017.9:g.38473395_38473396insA	NCBI36
NG_005905.2:g.150131_150132insT , LRG_292:g.150131_150132insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-158_4984-157insT	ENSP00000417241.2:n.4984-158_4984-157insT
ENST00000470026.6:c.4987-158_4987-157insT	ENSP00000419274.2:n.4987-158_4987-157insT
ENST00000473961.6:c.4861-158_4861-157insT	ENSP00000420201.2:n.4861-158_4861-157insT
ENST00000476777.6:c.4981-158_4981-157insT	ENSP00000417554.2:n.4981-158_4981-157insT
ENST00000477152.6:c.4909-158_4909-157insT	ENSP00000419988.2:n.4909-158_4909-157insT
ENST00000478531.6:c.1675-158_1675-157insT	ENSP00000420412.2:n.1675-158_1675-157insT
ENST00000489037.2:c.4909-158_4909-157insT	ENSP00000420781.2:n.4909-158_4909-157insT
ENST00000493919.6:c.1537-158_1537-157insT	ENSP00000418819.2:n.1537-158_1537-157insT
ENST00000494123.6:c.4987-158_4987-157insT	ENSP00000419103.2:n.4987-158_4987-157insT
ENST00000497488.2:c.4099-158_4099-157insT	ENSP00000418986.2:n.4099-158_4099-157insT
ENST00000618469.2:c.4987-158_4987-157insT	ENSP00000478114.2:n.4987-158_4987-157insT
ENST00000634433.2:c.4864-158_4864-157insT	ENSP00000489431.2:n.4864-158_4864-157insT
ENST00000644379.2:c.5053-158_5053-157insT	ENSP00000496570.2:n.5053-158_5053-157insT
ENST00000644555.2:c.1537-158_1537-157insT	ENSP00000494614.2:n.1537-158_1537-157insT
ENST00000652672.2:c.4846-158_4846-157insT	ENSP00000498906.2:n.4846-158_4846-157insT
ENST00000484087.6:c.1549-158_1549-157insT	ENSP00000419481.2:n.1549-158_1549-157insT
ENST00000357654.9:c.4987-158_4987-157insT MANE Select	ENSP00000350283.3:n.4987-158_4987-157insT
ENST00000471181.7:c.5050-158_5050-157insT	ENSP00000418960.2:n.5050-158_5050-157insT
ENST00000644379.1:c.1374-158_1374-157insT
ENST00000352993.7:c.1561-158_1561-157insT	ENSP00000312236.5:n.1561-158_1561-157insT
ENST00000357654.7:c.4987-158_4987-157insT	ENSP00000350283.3:n.4987-158_4987-157insT
ENST00000461221.5:c.*4770-158_*4770-157insT	ENSP00000418548.1:n.*4770-158_*4770-157insT
ENST00000468300.5:c.1675-158_1675-157insT	ENSP00000417148.1:n.1675-158_1675-157insT
ENST00000471181.6:c.5050-158_5050-157insT	ENSP00000418960.2:n.5050-158_5050-157insT
ENST00000472490.1:n.140-158_140-157insT
ENST00000478531.5:c.1675-158_1675-157insT	ENSP00000420412.1:n.1675-158_1675-157insT
ENST00000484087.5:c.1300-158_1300-157insT	ENSP00000419481.1:n.1300-158_1300-157insT
ENST00000491747.6:c.1675-158_1675-157insT	ENSP00000420705.2:n.1675-158_1675-157insT
ENST00000493795.5:c.4846-158_4846-157insT	ENSP00000418775.1:n.4846-158_4846-157insT
ENST00000493919.5:c.1537-158_1537-157insT	ENSP00000418819.1:n.1537-158_1537-157insT
ENST00000586385.5:c.5-3902_5-3901insT	ENSP00000465818.1:n.5-3902_5-3901insT
ENST00000591534.5:c.460-158_460-157insT	ENSP00000467329.1:n.460-158_460-157insT
ENST00000591849.5:c.-98-17663_-98-17662insT	ENSP00000465347.1:n.-98-17663_-98-17662insT
NM_007294.3:c.4987-158_4987-157insT , LRG_292t1:c.4987-158_4987-157insT	NP_009225.1:n.4987-158_4987-157insT
NM_007297.3:c.4846-158_4846-157insT	NP_009228.2:n.4846-158_4846-157insT
NM_007298.3:c.1675-158_1675-157insT	NP_009229.2:n.1675-158_1675-157insT
NM_007299.3:c.1675-158_1675-157insT	NP_009230.2:n.1675-158_1675-157insT
NM_007300.3:c.5050-158_5050-157insT	NP_009231.2:n.5050-158_5050-157insT
NR_027676.1:n.5123-158_5123-157insT
NM_007294.4:c.4987-158_4987-157insT MANE Select	NP_009225.1:n.4987-158_4987-157insT
NM_007297.4:c.4846-158_4846-157insT	NP_009228.2:n.4846-158_4846-157insT
NM_007299.4:c.1675-158_1675-157insT	NP_009230.2:n.1675-158_1675-157insT
NM_007300.4:c.5050-158_5050-157insT	NP_009231.2:n.5050-158_5050-157insT
NR_027676.2:n.5164-158_5164-157insT