Canonical Allele Identifier: CA983874195

Gene: BRCA1

Linked Data

• gnomAD v3: 17-43067933-CTT-C
• gnomAD v4: 17-43067933-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067935_43067936del , CM000679.2:g.43067935_43067936del	GRCh38
NC_000017.10:g.41219952_41219953del , CM000679.1:g.41219952_41219953del	GRCh37
NC_000017.9:g.38473478_38473479del	NCBI36
NG_005905.2:g.150049_150050del , LRG_292:g.150049_150050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4984-240_4984-239del	ENSP00000417241.2:n.4984-240_4984-239del
ENST00000470026.6:c.4987-240_4987-239del	ENSP00000419274.2:n.4987-240_4987-239del
ENST00000473961.6:c.4861-240_4861-239del	ENSP00000420201.2:n.4861-240_4861-239del
ENST00000476777.6:c.4981-240_4981-239del	ENSP00000417554.2:n.4981-240_4981-239del
ENST00000477152.6:c.4909-240_4909-239del	ENSP00000419988.2:n.4909-240_4909-239del
ENST00000478531.6:c.1675-240_1675-239del	ENSP00000420412.2:n.1675-240_1675-239del
ENST00000489037.2:c.4909-240_4909-239del	ENSP00000420781.2:n.4909-240_4909-239del
ENST00000493919.6:c.1537-240_1537-239del	ENSP00000418819.2:n.1537-240_1537-239del
ENST00000494123.6:c.4987-240_4987-239del	ENSP00000419103.2:n.4987-240_4987-239del
ENST00000497488.2:c.4099-240_4099-239del	ENSP00000418986.2:n.4099-240_4099-239del
ENST00000618469.2:c.4987-240_4987-239del	ENSP00000478114.2:n.4987-240_4987-239del
ENST00000634433.2:c.4864-240_4864-239del	ENSP00000489431.2:n.4864-240_4864-239del
ENST00000644379.2:c.5053-240_5053-239del	ENSP00000496570.2:n.5053-240_5053-239del
ENST00000644555.2:c.1537-240_1537-239del	ENSP00000494614.2:n.1537-240_1537-239del
ENST00000652672.2:c.4846-240_4846-239del	ENSP00000498906.2:n.4846-240_4846-239del
ENST00000484087.6:c.1549-240_1549-239del	ENSP00000419481.2:n.1549-240_1549-239del
ENST00000357654.9:c.4987-240_4987-239del MANE Select	ENSP00000350283.3:n.4987-240_4987-239del
ENST00000471181.7:c.5050-240_5050-239del	ENSP00000418960.2:n.5050-240_5050-239del
ENST00000644379.1:c.1374-240_1374-239del
ENST00000352993.7:c.1561-240_1561-239del	ENSP00000312236.5:n.1561-240_1561-239del
ENST00000357654.7:c.4987-240_4987-239del	ENSP00000350283.3:n.4987-240_4987-239del
ENST00000461221.5:c.*4770-240_*4770-239del	ENSP00000418548.1:n.*4770-240_*4770-239del
ENST00000468300.5:c.1675-240_1675-239del	ENSP00000417148.1:n.1675-240_1675-239del
ENST00000471181.6:c.5050-240_5050-239del	ENSP00000418960.2:n.5050-240_5050-239del
ENST00000472490.1:n.140-240_140-239del
ENST00000478531.5:c.1675-240_1675-239del	ENSP00000420412.1:n.1675-240_1675-239del
ENST00000484087.5:c.1300-240_1300-239del	ENSP00000419481.1:n.1300-240_1300-239del
ENST00000491747.6:c.1675-240_1675-239del	ENSP00000420705.2:n.1675-240_1675-239del
ENST00000493795.5:c.4846-240_4846-239del	ENSP00000418775.1:n.4846-240_4846-239del
ENST00000493919.5:c.1537-240_1537-239del	ENSP00000418819.1:n.1537-240_1537-239del
ENST00000586385.5:c.5-3984_5-3983del	ENSP00000465818.1:n.5-3984_5-3983del
ENST00000591534.5:c.460-240_460-239del	ENSP00000467329.1:n.460-240_460-239del
ENST00000591849.5:c.-98-17745_-98-17744del	ENSP00000465347.1:n.-98-17745_-98-17744del
NM_007294.3:c.4987-240_4987-239del , LRG_292t1:c.4987-240_4987-239del	NP_009225.1:n.4987-240_4987-239del
NM_007297.3:c.4846-240_4846-239del	NP_009228.2:n.4846-240_4846-239del
NM_007298.3:c.1675-240_1675-239del	NP_009229.2:n.1675-240_1675-239del
NM_007299.3:c.1675-240_1675-239del	NP_009230.2:n.1675-240_1675-239del
NM_007300.3:c.5050-240_5050-239del	NP_009231.2:n.5050-240_5050-239del
NR_027676.1:n.5123-240_5123-239del
NM_007294.4:c.4987-240_4987-239del MANE Select	NP_009225.1:n.4987-240_4987-239del
NM_007297.4:c.4846-240_4846-239del	NP_009228.2:n.4846-240_4846-239del
NM_007299.4:c.1675-240_1675-239del	NP_009230.2:n.1675-240_1675-239del
NM_007300.4:c.5050-240_5050-239del	NP_009231.2:n.5050-240_5050-239del
NR_027676.2:n.5164-240_5164-239del