Canonical Allele Identifier: CA983874144

Gene: BRCA1

Linked Data

• dbSNP Id: rs2052214332
• gnomAD v3: 17-43067913-T-TAGAATACC
• gnomAD v4: 17-43067913-T-TAGAATACC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067916_43067923dup , CM000679.2:g.43067916_43067923dup	GRCh38
NC_000017.10:g.41219933_41219940dup , CM000679.1:g.41219933_41219940dup	GRCh37
NC_000017.9:g.38473459_38473466dup	NCBI36
NG_005905.2:g.150063_150070dup , LRG_292:g.150063_150070dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-226_4984-219dup	ENSP00000417241.2:n.4984-226_4984-219dup
ENST00000470026.6:c.4987-226_4987-219dup	ENSP00000419274.2:n.4987-226_4987-219dup
ENST00000473961.6:c.4861-226_4861-219dup	ENSP00000420201.2:n.4861-226_4861-219dup
ENST00000476777.6:c.4981-226_4981-219dup	ENSP00000417554.2:n.4981-226_4981-219dup
ENST00000477152.6:c.4909-226_4909-219dup	ENSP00000419988.2:n.4909-226_4909-219dup
ENST00000478531.6:c.1675-226_1675-219dup	ENSP00000420412.2:n.1675-226_1675-219dup
ENST00000489037.2:c.4909-226_4909-219dup	ENSP00000420781.2:n.4909-226_4909-219dup
ENST00000493919.6:c.1537-226_1537-219dup	ENSP00000418819.2:n.1537-226_1537-219dup
ENST00000494123.6:c.4987-226_4987-219dup	ENSP00000419103.2:n.4987-226_4987-219dup
ENST00000497488.2:c.4099-226_4099-219dup	ENSP00000418986.2:n.4099-226_4099-219dup
ENST00000618469.2:c.4987-226_4987-219dup	ENSP00000478114.2:n.4987-226_4987-219dup
ENST00000634433.2:c.4864-226_4864-219dup	ENSP00000489431.2:n.4864-226_4864-219dup
ENST00000644379.2:c.5053-226_5053-219dup	ENSP00000496570.2:n.5053-226_5053-219dup
ENST00000644555.2:c.1537-226_1537-219dup	ENSP00000494614.2:n.1537-226_1537-219dup
ENST00000652672.2:c.4846-226_4846-219dup	ENSP00000498906.2:n.4846-226_4846-219dup
ENST00000484087.6:c.1549-226_1549-219dup	ENSP00000419481.2:n.1549-226_1549-219dup
ENST00000357654.9:c.4987-226_4987-219dup MANE Select	ENSP00000350283.3:n.4987-226_4987-219dup
ENST00000471181.7:c.5050-226_5050-219dup	ENSP00000418960.2:n.5050-226_5050-219dup
ENST00000644379.1:c.1374-226_1374-219dup
ENST00000352993.7:c.1561-226_1561-219dup	ENSP00000312236.5:n.1561-226_1561-219dup
ENST00000357654.7:c.4987-226_4987-219dup	ENSP00000350283.3:n.4987-226_4987-219dup
ENST00000461221.5:c.*4770-226_*4770-219dup	ENSP00000418548.1:n.*4770-226_*4770-219dup
ENST00000468300.5:c.1675-226_1675-219dup	ENSP00000417148.1:n.1675-226_1675-219dup
ENST00000471181.6:c.5050-226_5050-219dup	ENSP00000418960.2:n.5050-226_5050-219dup
ENST00000472490.1:n.140-226_140-219dup
ENST00000478531.5:c.1675-226_1675-219dup	ENSP00000420412.1:n.1675-226_1675-219dup
ENST00000484087.5:c.1300-226_1300-219dup	ENSP00000419481.1:n.1300-226_1300-219dup
ENST00000491747.6:c.1675-226_1675-219dup	ENSP00000420705.2:n.1675-226_1675-219dup
ENST00000493795.5:c.4846-226_4846-219dup	ENSP00000418775.1:n.4846-226_4846-219dup
ENST00000493919.5:c.1537-226_1537-219dup	ENSP00000418819.1:n.1537-226_1537-219dup
ENST00000586385.5:c.5-3970_5-3963dup	ENSP00000465818.1:n.5-3970_5-3963dup
ENST00000591534.5:c.460-226_460-219dup	ENSP00000467329.1:n.460-226_460-219dup
ENST00000591849.5:c.-98-17731_-98-17724dup	ENSP00000465347.1:n.-98-17731_-98-17724dup
NM_007294.3:c.4987-226_4987-219dup , LRG_292t1:c.4987-226_4987-219dup	NP_009225.1:n.4987-226_4987-219dup
NM_007297.3:c.4846-226_4846-219dup	NP_009228.2:n.4846-226_4846-219dup
NM_007298.3:c.1675-226_1675-219dup	NP_009229.2:n.1675-226_1675-219dup
NM_007299.3:c.1675-226_1675-219dup	NP_009230.2:n.1675-226_1675-219dup
NM_007300.3:c.5050-226_5050-219dup	NP_009231.2:n.5050-226_5050-219dup
NR_027676.1:n.5123-226_5123-219dup
NM_007294.4:c.4987-226_4987-219dup MANE Select	NP_009225.1:n.4987-226_4987-219dup
NM_007297.4:c.4846-226_4846-219dup	NP_009228.2:n.4846-226_4846-219dup
NM_007299.4:c.1675-226_1675-219dup	NP_009230.2:n.1675-226_1675-219dup
NM_007300.4:c.5050-226_5050-219dup	NP_009231.2:n.5050-226_5050-219dup
NR_027676.2:n.5164-226_5164-219dup