Canonical Allele Identifier: CA983874193

Gene: BRCA1

Linked Data

• gnomAD v3: 17-43067932-GCTTT-G
• gnomAD v4: 17-43067932-GCTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067933_43067936del , CM000679.2:g.43067933_43067936del	GRCh38
NC_000017.10:g.41219950_41219953del , CM000679.1:g.41219950_41219953del	GRCh37
NC_000017.9:g.38473476_38473479del	NCBI36
NG_005905.2:g.150048_150051del , LRG_292:g.150048_150051del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-241_4984-238del	ENSP00000417241.2:n.4984-241_4984-238del
ENST00000470026.6:c.4987-241_4987-238del	ENSP00000419274.2:n.4987-241_4987-238del
ENST00000473961.6:c.4861-241_4861-238del	ENSP00000420201.2:n.4861-241_4861-238del
ENST00000476777.6:c.4981-241_4981-238del	ENSP00000417554.2:n.4981-241_4981-238del
ENST00000477152.6:c.4909-241_4909-238del	ENSP00000419988.2:n.4909-241_4909-238del
ENST00000478531.6:c.1675-241_1675-238del	ENSP00000420412.2:n.1675-241_1675-238del
ENST00000489037.2:c.4909-241_4909-238del	ENSP00000420781.2:n.4909-241_4909-238del
ENST00000493919.6:c.1537-241_1537-238del	ENSP00000418819.2:n.1537-241_1537-238del
ENST00000494123.6:c.4987-241_4987-238del	ENSP00000419103.2:n.4987-241_4987-238del
ENST00000497488.2:c.4099-241_4099-238del	ENSP00000418986.2:n.4099-241_4099-238del
ENST00000618469.2:c.4987-241_4987-238del	ENSP00000478114.2:n.4987-241_4987-238del
ENST00000634433.2:c.4864-241_4864-238del	ENSP00000489431.2:n.4864-241_4864-238del
ENST00000644379.2:c.5053-241_5053-238del	ENSP00000496570.2:n.5053-241_5053-238del
ENST00000644555.2:c.1537-241_1537-238del	ENSP00000494614.2:n.1537-241_1537-238del
ENST00000652672.2:c.4846-241_4846-238del	ENSP00000498906.2:n.4846-241_4846-238del
ENST00000484087.6:c.1549-241_1549-238del	ENSP00000419481.2:n.1549-241_1549-238del
ENST00000357654.9:c.4987-241_4987-238del MANE Select	ENSP00000350283.3:n.4987-241_4987-238del
ENST00000471181.7:c.5050-241_5050-238del	ENSP00000418960.2:n.5050-241_5050-238del
ENST00000644379.1:c.1374-241_1374-238del
ENST00000352993.7:c.1561-241_1561-238del	ENSP00000312236.5:n.1561-241_1561-238del
ENST00000357654.7:c.4987-241_4987-238del	ENSP00000350283.3:n.4987-241_4987-238del
ENST00000461221.5:c.*4770-241_*4770-238del	ENSP00000418548.1:n.*4770-241_*4770-238del
ENST00000468300.5:c.1675-241_1675-238del	ENSP00000417148.1:n.1675-241_1675-238del
ENST00000471181.6:c.5050-241_5050-238del	ENSP00000418960.2:n.5050-241_5050-238del
ENST00000472490.1:n.140-241_140-238del
ENST00000478531.5:c.1675-241_1675-238del	ENSP00000420412.1:n.1675-241_1675-238del
ENST00000484087.5:c.1300-241_1300-238del	ENSP00000419481.1:n.1300-241_1300-238del
ENST00000491747.6:c.1675-241_1675-238del	ENSP00000420705.2:n.1675-241_1675-238del
ENST00000493795.5:c.4846-241_4846-238del	ENSP00000418775.1:n.4846-241_4846-238del
ENST00000493919.5:c.1537-241_1537-238del	ENSP00000418819.1:n.1537-241_1537-238del
ENST00000586385.5:c.5-3985_5-3982del	ENSP00000465818.1:n.5-3985_5-3982del
ENST00000591534.5:c.460-241_460-238del	ENSP00000467329.1:n.460-241_460-238del
ENST00000591849.5:c.-98-17746_-98-17743del	ENSP00000465347.1:n.-98-17746_-98-17743del
NM_007294.3:c.4987-241_4987-238del , LRG_292t1:c.4987-241_4987-238del	NP_009225.1:n.4987-241_4987-238del
NM_007297.3:c.4846-241_4846-238del	NP_009228.2:n.4846-241_4846-238del
NM_007298.3:c.1675-241_1675-238del	NP_009229.2:n.1675-241_1675-238del
NM_007299.3:c.1675-241_1675-238del	NP_009230.2:n.1675-241_1675-238del
NM_007300.3:c.5050-241_5050-238del	NP_009231.2:n.5050-241_5050-238del
NR_027676.1:n.5123-241_5123-238del
NM_007294.4:c.4987-241_4987-238del MANE Select	NP_009225.1:n.4987-241_4987-238del
NM_007297.4:c.4846-241_4846-238del	NP_009228.2:n.4846-241_4846-238del
NM_007299.4:c.1675-241_1675-238del	NP_009230.2:n.1675-241_1675-238del
NM_007300.4:c.5050-241_5050-238del	NP_009231.2:n.5050-241_5050-238del
NR_027676.2:n.5164-241_5164-238del