Canonical Allele Identifier: CA983873371

Gene: BRCA1

Linked Data

• dbSNP Id: rs11421283
• gnomAD v3: 17-43067836-A-ATTTTTT
• gnomAD v4: 17-43067836-A-ATTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067850_43067855dup , CM000679.2:g.43067850_43067855dup	GRCh38
NC_000017.10:g.41219867_41219872dup , CM000679.1:g.41219867_41219872dup	GRCh37
NC_000017.9:g.38473393_38473398dup	NCBI36
NG_005905.2:g.150142_150147dup , LRG_292:g.150142_150147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-147_4984-142dup	ENSP00000417241.2:n.4984-147_4984-142dup
ENST00000470026.6:c.4987-147_4987-142dup	ENSP00000419274.2:n.4987-147_4987-142dup
ENST00000473961.6:c.4861-147_4861-142dup	ENSP00000420201.2:n.4861-147_4861-142dup
ENST00000476777.6:c.4981-147_4981-142dup	ENSP00000417554.2:n.4981-147_4981-142dup
ENST00000477152.6:c.4909-147_4909-142dup	ENSP00000419988.2:n.4909-147_4909-142dup
ENST00000478531.6:c.1675-147_1675-142dup	ENSP00000420412.2:n.1675-147_1675-142dup
ENST00000489037.2:c.4909-147_4909-142dup	ENSP00000420781.2:n.4909-147_4909-142dup
ENST00000493919.6:c.1537-147_1537-142dup	ENSP00000418819.2:n.1537-147_1537-142dup
ENST00000494123.6:c.4987-147_4987-142dup	ENSP00000419103.2:n.4987-147_4987-142dup
ENST00000497488.2:c.4099-147_4099-142dup	ENSP00000418986.2:n.4099-147_4099-142dup
ENST00000618469.2:c.4987-147_4987-142dup	ENSP00000478114.2:n.4987-147_4987-142dup
ENST00000634433.2:c.4864-147_4864-142dup	ENSP00000489431.2:n.4864-147_4864-142dup
ENST00000644379.2:c.5053-147_5053-142dup	ENSP00000496570.2:n.5053-147_5053-142dup
ENST00000644555.2:c.1537-147_1537-142dup	ENSP00000494614.2:n.1537-147_1537-142dup
ENST00000652672.2:c.4846-147_4846-142dup	ENSP00000498906.2:n.4846-147_4846-142dup
ENST00000484087.6:c.1549-147_1549-142dup	ENSP00000419481.2:n.1549-147_1549-142dup
ENST00000357654.9:c.4987-147_4987-142dup MANE Select	ENSP00000350283.3:n.4987-147_4987-142dup
ENST00000471181.7:c.5050-147_5050-142dup	ENSP00000418960.2:n.5050-147_5050-142dup
ENST00000644379.1:c.1374-147_1374-142dup
ENST00000352993.7:c.1561-147_1561-142dup	ENSP00000312236.5:n.1561-147_1561-142dup
ENST00000357654.7:c.4987-147_4987-142dup	ENSP00000350283.3:n.4987-147_4987-142dup
ENST00000461221.5:c.*4770-147_*4770-142dup	ENSP00000418548.1:n.*4770-147_*4770-142dup
ENST00000468300.5:c.1675-147_1675-142dup	ENSP00000417148.1:n.1675-147_1675-142dup
ENST00000471181.6:c.5050-147_5050-142dup	ENSP00000418960.2:n.5050-147_5050-142dup
ENST00000472490.1:n.140-147_140-142dup
ENST00000478531.5:c.1675-147_1675-142dup	ENSP00000420412.1:n.1675-147_1675-142dup
ENST00000484087.5:c.1300-147_1300-142dup	ENSP00000419481.1:n.1300-147_1300-142dup
ENST00000491747.6:c.1675-147_1675-142dup	ENSP00000420705.2:n.1675-147_1675-142dup
ENST00000493795.5:c.4846-147_4846-142dup	ENSP00000418775.1:n.4846-147_4846-142dup
ENST00000493919.5:c.1537-147_1537-142dup	ENSP00000418819.1:n.1537-147_1537-142dup
ENST00000586385.5:c.5-3891_5-3886dup	ENSP00000465818.1:n.5-3891_5-3886dup
ENST00000591534.5:c.460-147_460-142dup	ENSP00000467329.1:n.460-147_460-142dup
ENST00000591849.5:c.-98-17652_-98-17647dup	ENSP00000465347.1:n.-98-17652_-98-17647dup
NM_007294.3:c.4987-147_4987-142dup , LRG_292t1:c.4987-147_4987-142dup	NP_009225.1:n.4987-147_4987-142dup
NM_007297.3:c.4846-147_4846-142dup	NP_009228.2:n.4846-147_4846-142dup
NM_007298.3:c.1675-147_1675-142dup	NP_009229.2:n.1675-147_1675-142dup
NM_007299.3:c.1675-147_1675-142dup	NP_009230.2:n.1675-147_1675-142dup
NM_007300.3:c.5050-147_5050-142dup	NP_009231.2:n.5050-147_5050-142dup
NR_027676.1:n.5123-147_5123-142dup
NM_007294.4:c.4987-147_4987-142dup MANE Select	NP_009225.1:n.4987-147_4987-142dup
NM_007297.4:c.4846-147_4846-142dup	NP_009228.2:n.4846-147_4846-142dup
NM_007299.4:c.1675-147_1675-142dup	NP_009230.2:n.1675-147_1675-142dup
NM_007300.4:c.5050-147_5050-142dup	NP_009231.2:n.5050-147_5050-142dup
NR_027676.2:n.5164-147_5164-142dup