Canonical Allele Identifier: CA2499224425

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082473_43082477del , CM000679.2:g.43082473_43082477del	GRCh38
NC_000017.10:g.41234490_41234494del , CM000679.1:g.41234490_41234494del	GRCh37
NC_000017.9:g.38488016_38488020del	NCBI36
NG_005905.2:g.135509_135513del , LRG_292:g.135509_135513del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4286_4290del	ENSP00000417241.2:p.Tyr1429PhefsTer5
ENST00000470026.6:c.4286_4290del	ENSP00000419274.2:p.Tyr1429PhefsTer5
ENST00000473961.6:c.4160_4164del	ENSP00000420201.2:p.Tyr1387PhefsTer5
ENST00000476777.6:c.4280_4284del	ENSP00000417554.2:p.Tyr1427PhefsTer5
ENST00000477152.6:c.4208_4212del	ENSP00000419988.2:p.Tyr1403PhefsTer5
ENST00000478531.6:c.974_978del	ENSP00000420412.2:p.Tyr325PhefsTer5
ENST00000489037.2:c.4208_4212del	ENSP00000420781.2:p.Tyr1403PhefsTer5
ENST00000493919.6:c.836_840del	ENSP00000418819.2:p.Tyr279PhefsTer5
ENST00000494123.6:c.4286_4290del	ENSP00000419103.2:p.Tyr1429PhefsTer5
ENST00000497488.2:c.3398_3402del	ENSP00000418986.2:p.Tyr1133PhefsTer5
ENST00000618469.2:c.4286_4290del	ENSP00000478114.2:p.Tyr1429PhefsTer5
ENST00000634433.2:c.4163_4167del	ENSP00000489431.2:p.Tyr1388PhefsTer5
ENST00000644379.2:c.4286_4290del	ENSP00000496570.2:p.Tyr1429PhefsTer5
ENST00000644555.2:c.836_840del	ENSP00000494614.2:p.Tyr279PhefsTer5
ENST00000652672.2:c.4145_4149del	ENSP00000498906.2:p.Tyr1382PhefsTer5
ENST00000484087.6:c.851_855del	ENSP00000419481.2:p.Tyr284PhefsTer5
ENST00000700182.1:c.896_900del	ENSP00000514849.1:p.Tyr299PhefsTer5
ENST00000357654.9:c.4286_4290del MANE Select	ENSP00000350283.3:p.Tyr1429PhefsTer5
ENST00000471181.7:c.4286_4290del	ENSP00000418960.2:p.Tyr1429PhefsTer5
ENST00000644379.1:c.607_611del
ENST00000352993.7:c.860_864del	ENSP00000312236.5:p.Tyr287PhefsTer5
ENST00000357654.7:c.4286_4290del	ENSP00000350283.3:p.Tyr1429PhefsTer5
ENST00000461221.5:c.*4069_*4073del	ENSP00000418548.1:n.*4069_*4073del
ENST00000461574.1:c.580_584del
ENST00000468300.5:c.977_981del	ENSP00000417148.1:p.Tyr326PhefsTer5
ENST00000471181.6:c.4286_4290del	ENSP00000418960.2:p.Tyr1429PhefsTer5
ENST00000478531.5:c.974_978del	ENSP00000420412.1:p.Tyr325PhefsTer5
ENST00000484087.5:c.599_603del	ENSP00000419481.1:p.Tyr200PhefsTer5
ENST00000487825.5:c.602_606del	ENSP00000418212.1:p.Tyr201PhefsTer5
ENST00000491747.6:c.977_981del	ENSP00000420705.2:p.Tyr326PhefsTer5
ENST00000493795.5:c.4145_4149del	ENSP00000418775.1:p.Tyr1382PhefsTer5
ENST00000493919.5:c.836_840del	ENSP00000418819.1:p.Tyr279PhefsTer5
ENST00000586385.5:c.5-18524_5-18520del	ENSP00000465818.1:n.5-18524_5-18520del
ENST00000591534.5:c.-43-7954_-43-7950del	ENSP00000467329.1:n.-43-7954_-43-7950del
ENST00000591849.5:c.-98-32285_-98-32281del	ENSP00000465347.1:n.-98-32285_-98-32281de...
ENST00000621897.1:n.180_184del
NM_007294.3:c.4286_4290del , LRG_292t1:c.4286_4290del	NP_009225.1:p.Tyr1429PhefsTer5
NM_007297.3:c.4145_4149del	NP_009228.2:p.Tyr1382PhefsTer5
NM_007298.3:c.977_981del	NP_009229.2:p.Tyr326PhefsTer5
NM_007299.3:c.977_981del	NP_009230.2:p.Tyr326PhefsTer5
NM_007300.3:c.4286_4290del	NP_009231.2:p.Tyr1429PhefsTer5
NR_027676.1:n.4422_4426del
NM_007294.4:c.4286_4290del MANE Select	NP_009225.1:p.Tyr1429PhefsTer5
NM_007297.4:c.4145_4149del	NP_009228.2:p.Tyr1382PhefsTer5
NM_007299.4:c.977_981del	NP_009230.2:p.Tyr326PhefsTer5
NM_007300.4:c.4286_4290del	NP_009231.2:p.Tyr1429PhefsTer5
NR_027676.2:n.4463_4467del