Canonical Allele Identifier: CA2260777858

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082208_43082217delinsAACATGAATG , CM000679.2:g.43082208_43082217delinsAACATGAATG	GRCh38
NC_000017.10:g.41234225_41234234delinsAACATGAATG , CM000679.1:g.41234225_41234234delinsAACATGAATG	GRCh37
NC_000017.9:g.38487751_38487760delinsAACATGAATG	NCBI36
NG_005905.2:g.135767_135776delinsCATTCATGTT , LRG_292:g.135767_135776delinsCATTCATGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4357+187_4357+196delinsCATTCATGTT	ENSP00000417241.2:n.4357+187_4357+196delinsCATTCATGTT
ENST00000470026.6:c.4357+187_4357+196delinsCATTCATGTT	ENSP00000419274.2:n.4357+187_4357+196delinsCATTCATGTT
ENST00000473961.6:c.4231+187_4231+196delinsCATTCATGTT	ENSP00000420201.2:n.4231+187_4231+196delinsCATTCATGTT
ENST00000476777.6:c.4351+187_4351+196delinsCATTCATGTT	ENSP00000417554.2:n.4351+187_4351+196delinsCATTCATGTT
ENST00000477152.6:c.4279+187_4279+196delinsCATTCATGTT	ENSP00000419988.2:n.4279+187_4279+196delinsCATTCATGTT
ENST00000478531.6:c.1045+187_1045+196delinsCATTCATGTT	ENSP00000420412.2:n.1045+187_1045+196delinsCATTCATGTT
ENST00000489037.2:c.4279+187_4279+196delinsCATTCATGTT	ENSP00000420781.2:n.4279+187_4279+196delinsCATTCATGTT
ENST00000493919.6:c.907+187_907+196delinsCATTCATGTT	ENSP00000418819.2:n.907+187_907+196delinsCATTCATGTT
ENST00000494123.6:c.4357+187_4357+196delinsCATTCATGTT	ENSP00000419103.2:n.4357+187_4357+196delinsCATTCATGTT
ENST00000497488.2:c.3469+187_3469+196delinsCATTCATGTT	ENSP00000418986.2:n.3469+187_3469+196delinsCATTCATGTT
ENST00000618469.2:c.4357+187_4357+196delinsCATTCATGTT	ENSP00000478114.2:n.4357+187_4357+196delinsCATTCATGTT
ENST00000634433.2:c.4234+187_4234+196delinsCATTCATGTT	ENSP00000489431.2:n.4234+187_4234+196delinsCATTCATGTT
ENST00000644379.2:c.4357+187_4357+196delinsCATTCATGTT	ENSP00000496570.2:n.4357+187_4357+196delinsCATTCATGTT
ENST00000644555.2:c.907+187_907+196delinsCATTCATGTT	ENSP00000494614.2:n.907+187_907+196delinsCATTCATGTT
ENST00000652672.2:c.4216+187_4216+196delinsCATTCATGTT	ENSP00000498906.2:n.4216+187_4216+196delinsCATTCATGTT
ENST00000484087.6:c.922+187_922+196delinsCATTCATGTT	ENSP00000419481.2:n.922+187_922+196delinsCATTCATGTT
ENST00000700182.1:c.967+187_967+196delinsCATTCATGTT	ENSP00000514849.1:n.967+187_967+196delinsCATTCATGTT
ENST00000357654.9:c.4357+187_4357+196delinsCATTCATGTT MANE Select	ENSP00000350283.3:n.4357+187_4357+196delinsCATTCATGTT
ENST00000471181.7:c.4357+187_4357+196delinsCATTCATGTT	ENSP00000418960.2:n.4357+187_4357+196delinsCATTCATGTT
ENST00000644379.1:c.678+187_678+196delinsCATTCATGTT
ENST00000352993.7:c.931+187_931+196delinsCATTCATGTT	ENSP00000312236.5:n.931+187_931+196delinsCATTCATGTT
ENST00000357654.7:c.4357+187_4357+196delinsCATTCATGTT	ENSP00000350283.3:n.4357+187_4357+196delinsCATTCATGTT
ENST00000461221.5:c.*4140+187_*4140+196delinsCATTCATGTT	ENSP00000418548.1:n.*4140+187_*4140+196delinsCATTCATGTT
ENST00000461574.1:c.651+187_651+196delinsCATTCATGTT
ENST00000468300.5:c.1048+187_1048+196delinsCATTCATGTT	ENSP00000417148.1:n.1048+187_1048+196delinsCATTCATGTT
ENST00000471181.6:c.4357+187_4357+196delinsCATTCATGTT	ENSP00000418960.2:n.4357+187_4357+196delinsCATTCATGTT
ENST00000478531.5:c.1045+187_1045+196delinsCATTCATGTT	ENSP00000420412.1:n.1045+187_1045+196delinsCATTCATGTT
ENST00000484087.5:c.670+187_670+196delinsCATTCATGTT	ENSP00000419481.1:n.670+187_670+196delinsCATTCATGTT
ENST00000487825.5:c.673+187_673+196delinsCATTCATGTT	ENSP00000418212.1:n.673+187_673+196delinsCATTCATGTT
ENST00000491747.6:c.1048+187_1048+196delinsCATTCATGTT	ENSP00000420705.2:n.1048+187_1048+196delinsCATTCATGTT
ENST00000493795.5:c.4216+187_4216+196delinsCATTCATGTT	ENSP00000418775.1:n.4216+187_4216+196delinsCATTCATGTT
ENST00000493919.5:c.907+187_907+196delinsCATTCATGTT	ENSP00000418819.1:n.907+187_907+196delinsCATTCATGTT
ENST00000586385.5:c.5-18266_5-18257delinsCATTCATGTT	ENSP00000465818.1:n.5-18266_5-18257delinsCATTCATGTT
ENST00000591534.5:c.-43-7696_-43-7687delinsCATTCATGTT	ENSP00000467329.1:n.-43-7696_-43-7687delinsCATTCATGTT
ENST00000591849.5:c.-98-32027_-98-32018delinsCATTCATGTT	ENSP00000465347.1:n.-98-32027_-98-32018delinsCATTCATGTT
ENST00000621897.1:n.251+187_251+196delinsCATTCATGTT
NM_007294.3:c.4357+187_4357+196delinsCATTCATGTT , LRG_292t1:c.4357+187_4357+196delinsCATTCATGTT	NP_009225.1:n.4357+187_4357+196delinsCATTCATGTT
NM_007297.3:c.4216+187_4216+196delinsCATTCATGTT	NP_009228.2:n.4216+187_4216+196delinsCATTCATGTT
NM_007298.3:c.1048+187_1048+196delinsCATTCATGTT	NP_009229.2:n.1048+187_1048+196delinsCATTCATGTT
NM_007299.3:c.1048+187_1048+196delinsCATTCATGTT	NP_009230.2:n.1048+187_1048+196delinsCATTCATGTT
NM_007300.3:c.4357+187_4357+196delinsCATTCATGTT	NP_009231.2:n.4357+187_4357+196delinsCATTCATGTT
NR_027676.1:n.4493+187_4493+196delinsCATTCATGTT
NM_007294.4:c.4357+187_4357+196delinsCATTCATGTT MANE Select	NP_009225.1:n.4357+187_4357+196delinsCATTCATGTT
NM_007297.4:c.4216+187_4216+196delinsCATTCATGTT	NP_009228.2:n.4216+187_4216+196delinsCATTCATGTT
NM_007299.4:c.1048+187_1048+196delinsCATTCATGTT	NP_009230.2:n.1048+187_1048+196delinsCATTCATGTT
NM_007300.4:c.4357+187_4357+196delinsCATTCATGTT	NP_009231.2:n.4357+187_4357+196delinsCATTCATGTT
NR_027676.2:n.4534+187_4534+196delinsCATTCATGTT