Canonical Allele Identifier: CA983873429

Gene: BRCA1

Linked Data

• gnomAD v3: 17-43067855-TAGAC-T
• gnomAD v4: 17-43067855-TAGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067859_43067862del , CM000679.2:g.43067859_43067862del	GRCh38
NC_000017.10:g.41219876_41219879del , CM000679.1:g.41219876_41219879del	GRCh37
NC_000017.9:g.38473402_38473405del	NCBI36
NG_005905.2:g.150125_150128del , LRG_292:g.150125_150128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-164_4984-161del	ENSP00000417241.2:n.4984-164_4984-161del
ENST00000470026.6:c.4987-164_4987-161del	ENSP00000419274.2:n.4987-164_4987-161del
ENST00000473961.6:c.4861-164_4861-161del	ENSP00000420201.2:n.4861-164_4861-161del
ENST00000476777.6:c.4981-164_4981-161del	ENSP00000417554.2:n.4981-164_4981-161del
ENST00000477152.6:c.4909-164_4909-161del	ENSP00000419988.2:n.4909-164_4909-161del
ENST00000478531.6:c.1675-164_1675-161del	ENSP00000420412.2:n.1675-164_1675-161del
ENST00000489037.2:c.4909-164_4909-161del	ENSP00000420781.2:n.4909-164_4909-161del
ENST00000493919.6:c.1537-164_1537-161del	ENSP00000418819.2:n.1537-164_1537-161del
ENST00000494123.6:c.4987-164_4987-161del	ENSP00000419103.2:n.4987-164_4987-161del
ENST00000497488.2:c.4099-164_4099-161del	ENSP00000418986.2:n.4099-164_4099-161del
ENST00000618469.2:c.4987-164_4987-161del	ENSP00000478114.2:n.4987-164_4987-161del
ENST00000634433.2:c.4864-164_4864-161del	ENSP00000489431.2:n.4864-164_4864-161del
ENST00000644379.2:c.5053-164_5053-161del	ENSP00000496570.2:n.5053-164_5053-161del
ENST00000644555.2:c.1537-164_1537-161del	ENSP00000494614.2:n.1537-164_1537-161del
ENST00000652672.2:c.4846-164_4846-161del	ENSP00000498906.2:n.4846-164_4846-161del
ENST00000484087.6:c.1549-164_1549-161del	ENSP00000419481.2:n.1549-164_1549-161del
ENST00000357654.9:c.4987-164_4987-161del MANE Select	ENSP00000350283.3:n.4987-164_4987-161del
ENST00000471181.7:c.5050-164_5050-161del	ENSP00000418960.2:n.5050-164_5050-161del
ENST00000644379.1:c.1374-164_1374-161del
ENST00000352993.7:c.1561-164_1561-161del	ENSP00000312236.5:n.1561-164_1561-161del
ENST00000357654.7:c.4987-164_4987-161del	ENSP00000350283.3:n.4987-164_4987-161del
ENST00000461221.5:c.*4770-164_*4770-161del	ENSP00000418548.1:n.*4770-164_*4770-161del
ENST00000468300.5:c.1675-164_1675-161del	ENSP00000417148.1:n.1675-164_1675-161del
ENST00000471181.6:c.5050-164_5050-161del	ENSP00000418960.2:n.5050-164_5050-161del
ENST00000472490.1:n.140-164_140-161del
ENST00000478531.5:c.1675-164_1675-161del	ENSP00000420412.1:n.1675-164_1675-161del
ENST00000484087.5:c.1300-164_1300-161del	ENSP00000419481.1:n.1300-164_1300-161del
ENST00000491747.6:c.1675-164_1675-161del	ENSP00000420705.2:n.1675-164_1675-161del
ENST00000493795.5:c.4846-164_4846-161del	ENSP00000418775.1:n.4846-164_4846-161del
ENST00000493919.5:c.1537-164_1537-161del	ENSP00000418819.1:n.1537-164_1537-161del
ENST00000586385.5:c.5-3908_5-3905del	ENSP00000465818.1:n.5-3908_5-3905del
ENST00000591534.5:c.460-164_460-161del	ENSP00000467329.1:n.460-164_460-161del
ENST00000591849.5:c.-98-17669_-98-17666del	ENSP00000465347.1:n.-98-17669_-98-17666del
NM_007294.3:c.4987-164_4987-161del , LRG_292t1:c.4987-164_4987-161del	NP_009225.1:n.4987-164_4987-161del
NM_007297.3:c.4846-164_4846-161del	NP_009228.2:n.4846-164_4846-161del
NM_007298.3:c.1675-164_1675-161del	NP_009229.2:n.1675-164_1675-161del
NM_007299.3:c.1675-164_1675-161del	NP_009230.2:n.1675-164_1675-161del
NM_007300.3:c.5050-164_5050-161del	NP_009231.2:n.5050-164_5050-161del
NR_027676.1:n.5123-164_5123-161del
NM_007294.4:c.4987-164_4987-161del MANE Select	NP_009225.1:n.4987-164_4987-161del
NM_007297.4:c.4846-164_4846-161del	NP_009228.2:n.4846-164_4846-161del
NM_007299.4:c.1675-164_1675-161del	NP_009230.2:n.1675-164_1675-161del
NM_007300.4:c.5050-164_5050-161del	NP_009231.2:n.5050-164_5050-161del
NR_027676.2:n.5164-164_5164-161del