Canonical Allele Identifier: CA2260772844
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071020_43071027delinsCACTTTCT , CM000679.2:g.43071020_43071027delinsCACTTTCT GRCh38
NC_000017.10:g.41223037_41223044delinsCACTTTCT , CM000679.1:g.41223037_41223044delinsCACTTTCT GRCh37
NC_000017.9:g.38476563_38476570delinsCACTTTCT NCBI36
NG_005905.2:g.146957_146964delinsAGAAAGTG , LRG_292:g.146957_146964delinsAGAAAGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4884_4891delinsAGAAAGTG ENSP00000417241.2:p.Glu1628=
ENST00000470026.6:c.4887_4894delinsAGAAAGTG ENSP00000419274.2:p.Glu1629=
ENST00000473961.6:c.4761_4768delinsAGAAAGTG ENSP00000420201.2:p.Glu1587=
ENST00000476777.6:c.4881_4888delinsAGAAAGTG ENSP00000417554.2:p.Glu1627=
ENST00000477152.6:c.4809_4816delinsAGAAAGTG ENSP00000419988.2:p.Glu1603=
ENST00000478531.6:c.1575_1582delinsAGAAAGTG ENSP00000420412.2:p.Glu525=
ENST00000489037.2:c.4809_4816delinsAGAAAGTG ENSP00000420781.2:p.Glu1603=
ENST00000493919.6:c.1437_1444delinsAGAAAGTG ENSP00000418819.2:p.Glu479=
ENST00000494123.6:c.4887_4894delinsAGAAAGTG ENSP00000419103.2:p.Glu1629=
ENST00000497488.2:c.3999_4006delinsAGAAAGTG ENSP00000418986.2:p.Glu1333=
ENST00000618469.2:c.4887_4894delinsAGAAAGTG ENSP00000478114.2:p.Glu1629=
ENST00000634433.2:c.4764_4771delinsAGAAAGTG ENSP00000489431.2:p.Glu1588=
ENST00000644379.2:c.4953_4960delinsAGAAAGTG ENSP00000496570.2:p.Glu1651=
ENST00000644555.2:c.1437_1444delinsAGAAAGTG ENSP00000494614.2:p.Glu479=
ENST00000652672.2:c.4746_4753delinsAGAAAGTG ENSP00000498906.2:p.Glu1582=
ENST00000484087.6:c.1449_1456delinsAGAAAGTG ENSP00000419481.2:p.Glu483=
ENST00000700182.1:c.1494_1501delinsAGAAAGTG ENSP00000514849.1:p.Glu498=
ENST00000357654.9:c.4887_4894delinsAGAAAGTG MANE Select ENSP00000350283.3:p.Glu1629=
ENST00000471181.7:c.4950_4957delinsAGAAAGTG ENSP00000418960.2:p.Glu1650=
ENST00000644379.1:c.1274_1281delinsAGAAAGTG
ENST00000352993.7:c.1461_1468delinsAGAAAGTG ENSP00000312236.5:p.Glu487=
ENST00000357654.7:c.4887_4894delinsAGAAAGTG ENSP00000350283.3:p.Glu1629=
ENST00000461221.5:c.*4670_*4677delinsAGAAAGTG ENSP00000418548.1:n.*4670_*4677delinsAGAAAGTG
ENST00000468300.5:c.1575_1582delinsAGAAAGTG ENSP00000417148.1:p.Glu525=
ENST00000471181.6:c.4950_4957delinsAGAAAGTG ENSP00000418960.2:p.Glu1650=
ENST00000472490.1:n.40_47delinsAGAAAGTG
ENST00000478531.5:c.1575_1582delinsAGAAAGTG ENSP00000420412.1:p.Glu525=
ENST00000484087.5:c.1200_1207delinsAGAAAGTG ENSP00000419481.1:p.Glu400=
ENST00000491747.6:c.1575_1582delinsAGAAAGTG ENSP00000420705.2:p.Glu525=
ENST00000493795.5:c.4746_4753delinsAGAAAGTG ENSP00000418775.1:p.Glu1582=
ENST00000493919.5:c.1437_1444delinsAGAAAGTG ENSP00000418819.1:p.Glu479=
ENST00000586385.5:c.5-7076_5-7069delinsAGAAAGTG ENSP00000465818.1:n.5-7076_5-7069delinsAGAAAGTG
ENST00000591534.5:c.360_367delinsAGAAAGTG ENSP00000467329.1:p.Glu120=
ENST00000591849.5:c.-98-20837_-98-20830delinsAGAAAGTG ENSP00000465347.1:n.-98-20837_-98-20830delinsAGAAAGTG
NM_007294.3:c.4887_4894delinsAGAAAGTG , LRG_292t1:c.4887_4894delinsAGAAAGTG NP_009225.1:p.Glu1629=
NM_007297.3:c.4746_4753delinsAGAAAGTG NP_009228.2:p.Glu1582=
NM_007298.3:c.1575_1582delinsAGAAAGTG NP_009229.2:p.Glu525=
NM_007299.3:c.1575_1582delinsAGAAAGTG NP_009230.2:p.Glu525=
NM_007300.3:c.4950_4957delinsAGAAAGTG NP_009231.2:p.Glu1650=
NR_027676.1:n.5023_5030delinsAGAAAGTG
NM_007294.4:c.4887_4894delinsAGAAAGTG MANE Select NP_009225.1:p.Glu1629=
NM_007297.4:c.4746_4753delinsAGAAAGTG NP_009228.2:p.Glu1582=
NM_007299.4:c.1575_1582delinsAGAAAGTG NP_009230.2:p.Glu525=
NM_007300.4:c.4950_4957delinsAGAAAGTG NP_009231.2:p.Glu1650=
NR_027676.2:n.5064_5071delinsAGAAAGTG