Canonical Allele Identifier: CA2260777998
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43082465_43082490delinsGATGGAAGGGTAGCTGTTAGAAGGCT , CM000679.2:g.43082465_43082490delinsGATGGAAGGGTAGCTGTTAGAAGGCT GRCh38
NC_000017.10:g.41234482_41234507delinsGATGGAAGGGTAGCTGTTAGAAGGCT , CM000679.1:g.41234482_41234507delinsGATGGAAGGGTAGCTGTTAGAAGGCT GRCh37
NC_000017.9:g.38488008_38488033delinsGATGGAAGGGTAGCTGTTAGAAGGCT NCBI36
NG_005905.2:g.135494_135519delinsAGCCTTCTAACAGCTACCCTTCCATC , LRG_292:g.135494_135519delinsAGCCTTCTAACAGCTACCCTTCCATC

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000417241.2:p.Gln1424=
ENST00000470026.6:c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000419274.2:p.Gln1424=
ENST00000473961.6:c.4145_4170delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000420201.2:p.Gln1382=
ENST00000476777.6:c.4265_4290delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000417554.2:p.Gln1422=
ENST00000477152.6:c.4193_4218delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000419988.2:p.Gln1398=
ENST00000478531.6:c.959_984delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000420412.2:p.Gln320=
ENST00000489037.2:c.4193_4218delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000420781.2:p.Gln1398=
ENST00000493919.6:c.821_846delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000418819.2:p.Gln274=
ENST00000494123.6:c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000419103.2:p.Gln1424=
ENST00000497488.2:c.3383_3408delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000418986.2:p.Gln1128=
ENST00000618469.2:c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000478114.2:p.Gln1424=
ENST00000634433.2:c.4148_4173delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000489431.2:p.Gln1383=
ENST00000644379.2:c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000496570.2:p.Gln1424=
ENST00000644555.2:c.821_846delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000494614.2:p.Gln274=
ENST00000652672.2:c.4130_4155delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000498906.2:p.Gln1377=
ENST00000484087.6:c.836_861delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000419481.2:p.Gln279=
ENST00000700182.1:c.881_906delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000514849.1:p.Gln294=
ENST00000357654.9:c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC MANE Select ENSP00000350283.3:p.Gln1424=
ENST00000471181.7:c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000418960.2:p.Gln1424=
ENST00000644379.1:c.592_617delinsAGCCTTCTAACAGCTACCCTTCCATC
ENST00000352993.7:c.845_870delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000312236.5:p.Gln282=
ENST00000357654.7:c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000350283.3:p.Gln1424=
ENST00000461221.5:c.*4054_*4079delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000418548.1:n.*4054_*4079delinsAGCC...
ENST00000461574.1:c.565_590delinsAGCCTTCTAACAGCTACCCTTCCATC
ENST00000468300.5:c.962_987delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000417148.1:p.Gln321=
ENST00000471181.6:c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000418960.2:p.Gln1424=
ENST00000478531.5:c.959_984delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000420412.1:p.Gln320=
ENST00000484087.5:c.584_609delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000419481.1:p.Gln195=
ENST00000487825.5:c.587_612delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000418212.1:p.Gln196=
ENST00000491747.6:c.962_987delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000420705.2:p.Gln321=
ENST00000493795.5:c.4130_4155delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000418775.1:p.Gln1377=
ENST00000493919.5:c.821_846delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000418819.1:p.Gln274=
ENST00000586385.5:c.5-18539_5-18514delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000465818.1:n.5-18539_5-18514delins...
ENST00000591534.5:c.-43-7969_-43-7944delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000467329.1:n.-43-7969_-43-7944deli...
ENST00000591849.5:c.-98-32300_-98-32275delinsAGCCTTCTAACAGCTACCCTTCCATC ENSP00000465347.1:n.-98-32300_-98-32275de...
ENST00000621897.1:n.165_190delinsAGCCTTCTAACAGCTACCCTTCCATC
NM_007294.3:c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC , LRG_292t1:c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC NP_009225.1:p.Gln1424=
NM_007297.3:c.4130_4155delinsAGCCTTCTAACAGCTACCCTTCCATC NP_009228.2:p.Gln1377=
NM_007298.3:c.962_987delinsAGCCTTCTAACAGCTACCCTTCCATC NP_009229.2:p.Gln321=
NM_007299.3:c.962_987delinsAGCCTTCTAACAGCTACCCTTCCATC NP_009230.2:p.Gln321=
NM_007300.3:c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC NP_009231.2:p.Gln1424=
NR_027676.1:n.4407_4432delinsAGCCTTCTAACAGCTACCCTTCCATC
NM_007294.4:c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC MANE Select NP_009225.1:p.Gln1424=
NM_007297.4:c.4130_4155delinsAGCCTTCTAACAGCTACCCTTCCATC NP_009228.2:p.Gln1377=
NM_007299.4:c.962_987delinsAGCCTTCTAACAGCTACCCTTCCATC NP_009230.2:p.Gln321=
NM_007300.4:c.4271_4296delinsAGCCTTCTAACAGCTACCCTTCCATC NP_009231.2:p.Gln1424=
NR_027676.2:n.4448_4473delinsAGCCTTCTAACAGCTACCCTTCCATC