Canonical Allele Identifier: CA2260777790
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43082016_43082017delinsCT , CM000679.2:g.43082016_43082017delinsCT GRCh38
NC_000017.10:g.41234033_41234034delinsCT , CM000679.1:g.41234033_41234034delinsCT GRCh37
NC_000017.9:g.38487559_38487560delinsCT NCBI36
NG_005905.2:g.135967_135968delinsAG , LRG_292:g.135967_135968delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4357+387_4357+388delinsAG ENSP00000417241.2:n.4357+387_4357+388delinsAG
ENST00000470026.6:c.4357+387_4357+388delinsAG ENSP00000419274.2:n.4357+387_4357+388delinsAG
ENST00000473961.6:c.4231+387_4231+388delinsAG ENSP00000420201.2:n.4231+387_4231+388delinsAG
ENST00000476777.6:c.4351+387_4351+388delinsAG ENSP00000417554.2:n.4351+387_4351+388delinsAG
ENST00000477152.6:c.4279+387_4279+388delinsAG ENSP00000419988.2:n.4279+387_4279+388delinsAG
ENST00000478531.6:c.1045+387_1045+388delinsAG ENSP00000420412.2:n.1045+387_1045+388delinsAG
ENST00000489037.2:c.4279+387_4279+388delinsAG ENSP00000420781.2:n.4279+387_4279+388delinsAG
ENST00000493919.6:c.907+387_907+388delinsAG ENSP00000418819.2:n.907+387_907+388delinsAG
ENST00000494123.6:c.4357+387_4357+388delinsAG ENSP00000419103.2:n.4357+387_4357+388delinsAG
ENST00000497488.2:c.3469+387_3469+388delinsAG ENSP00000418986.2:n.3469+387_3469+388delinsAG
ENST00000618469.2:c.4357+387_4357+388delinsAG ENSP00000478114.2:n.4357+387_4357+388delinsAG
ENST00000634433.2:c.4234+387_4234+388delinsAG ENSP00000489431.2:n.4234+387_4234+388delinsAG
ENST00000644379.2:c.4357+387_4357+388delinsAG ENSP00000496570.2:n.4357+387_4357+388delinsAG
ENST00000644555.2:c.907+387_907+388delinsAG ENSP00000494614.2:n.907+387_907+388delinsAG
ENST00000652672.2:c.4216+387_4216+388delinsAG ENSP00000498906.2:n.4216+387_4216+388delinsAG
ENST00000484087.6:c.922+387_922+388delinsAG ENSP00000419481.2:n.922+387_922+388delinsAG
ENST00000700182.1:c.967+387_967+388delinsAG ENSP00000514849.1:n.967+387_967+388delinsAG
ENST00000357654.9:c.4357+387_4357+388delinsAG MANE Select ENSP00000350283.3:n.4357+387_4357+388delinsAG
ENST00000471181.7:c.4357+387_4357+388delinsAG ENSP00000418960.2:n.4357+387_4357+388delinsAG
ENST00000644379.1:c.678+387_678+388delinsAG
ENST00000352993.7:c.931+387_931+388delinsAG ENSP00000312236.5:n.931+387_931+388delinsAG
ENST00000357654.7:c.4357+387_4357+388delinsAG ENSP00000350283.3:n.4357+387_4357+388delinsAG
ENST00000461221.5:c.*4140+387_*4140+388delinsAG ENSP00000418548.1:n.*4140+387_*4140+388delinsAG
ENST00000461574.1:c.651+387_651+388delinsAG
ENST00000468300.5:c.1048+387_1048+388delinsAG ENSP00000417148.1:n.1048+387_1048+388delinsAG
ENST00000471181.6:c.4357+387_4357+388delinsAG ENSP00000418960.2:n.4357+387_4357+388delinsAG
ENST00000478531.5:c.1045+387_1045+388delinsAG ENSP00000420412.1:n.1045+387_1045+388delinsAG
ENST00000484087.5:c.670+387_670+388delinsAG ENSP00000419481.1:n.670+387_670+388delinsAG
ENST00000487825.5:c.673+387_673+388delinsAG ENSP00000418212.1:n.673+387_673+388delinsAG
ENST00000491747.6:c.1048+387_1048+388delinsAG ENSP00000420705.2:n.1048+387_1048+388delinsAG
ENST00000493795.5:c.4216+387_4216+388delinsAG ENSP00000418775.1:n.4216+387_4216+388delinsAG
ENST00000493919.5:c.907+387_907+388delinsAG ENSP00000418819.1:n.907+387_907+388delinsAG
ENST00000586385.5:c.5-18066_5-18065delinsAG ENSP00000465818.1:n.5-18066_5-18065delinsAG
ENST00000591534.5:c.-43-7496_-43-7495delinsAG ENSP00000467329.1:n.-43-7496_-43-7495delinsAG
ENST00000591849.5:c.-98-31827_-98-31826delinsAG ENSP00000465347.1:n.-98-31827_-98-31826delinsAG
ENST00000621897.1:n.251+387_251+388delinsAG
NM_007294.3:c.4357+387_4357+388delinsAG , LRG_292t1:c.4357+387_4357+388delinsAG NP_009225.1:n.4357+387_4357+388delinsAG
NM_007297.3:c.4216+387_4216+388delinsAG NP_009228.2:n.4216+387_4216+388delinsAG
NM_007298.3:c.1048+387_1048+388delinsAG NP_009229.2:n.1048+387_1048+388delinsAG
NM_007299.3:c.1048+387_1048+388delinsAG NP_009230.2:n.1048+387_1048+388delinsAG
NM_007300.3:c.4357+387_4357+388delinsAG NP_009231.2:n.4357+387_4357+388delinsAG
NR_027676.1:n.4493+387_4493+388delinsAG
NM_007294.4:c.4357+387_4357+388delinsAG MANE Select NP_009225.1:n.4357+387_4357+388delinsAG
NM_007297.4:c.4216+387_4216+388delinsAG NP_009228.2:n.4216+387_4216+388delinsAG
NM_007299.4:c.1048+387_1048+388delinsAG NP_009230.2:n.1048+387_1048+388delinsAG
NM_007300.4:c.4357+387_4357+388delinsAG NP_009231.2:n.4357+387_4357+388delinsAG
NR_027676.2:n.4534+387_4534+388delinsAG