Canonical Allele Identifier: CA919844474

Gene: BRCA1

Linked Data

• dbSNP Id: rs1567783037

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082421_43082422insTTCT , CM000679.2:g.43082421_43082422insTTCT	GRCh38
NC_000017.10:g.41234438_41234439insTTCT , CM000679.1:g.41234438_41234439insTTCT	GRCh37
NC_000017.9:g.38487964_38487965insTTCT	NCBI36
NG_005905.2:g.135563_135564insGAAA , LRG_292:g.135563_135564insGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4340_4341insGAAA	ENSP00000417241.2:p.Ser1448LysfsTer14
ENST00000470026.6:c.4340_4341insGAAA	ENSP00000419274.2:p.Ser1448LysfsTer15
ENST00000473961.6:c.4214_4215insGAAA	ENSP00000420201.2:p.Ser1406LysfsTer15
ENST00000476777.6:c.4334_4335insGAAA	ENSP00000417554.2:p.Ser1446LysfsTer15
ENST00000477152.6:c.4262_4263insGAAA	ENSP00000419988.2:p.Ser1422LysfsTer15
ENST00000478531.6:c.1028_1029insGAAA	ENSP00000420412.2:p.Ser344LysfsTer15
ENST00000489037.2:c.4262_4263insGAAA	ENSP00000420781.2:p.Ser1422LysfsTer15
ENST00000493919.6:c.890_891insGAAA	ENSP00000418819.2:p.Ser298LysfsTer15
ENST00000494123.6:c.4340_4341insGAAA	ENSP00000419103.2:p.Ser1448LysfsTer15
ENST00000497488.2:c.3452_3453insGAAA	ENSP00000418986.2:p.Ser1152LysfsTer15
ENST00000618469.2:c.4340_4341insGAAA	ENSP00000478114.2:p.Ser1448LysfsTer15
ENST00000634433.2:c.4217_4218insGAAA	ENSP00000489431.2:p.Ser1407LysfsTer15
ENST00000644379.2:c.4340_4341insGAAA	ENSP00000496570.2:p.Ser1448LysfsTer21
ENST00000644555.2:c.890_891insGAAA	ENSP00000494614.2:p.Ser298LysfsTer15
ENST00000652672.2:c.4199_4200insGAAA	ENSP00000498906.2:p.Ser1401LysfsTer15
ENST00000484087.6:c.905_906insGAAA	ENSP00000419481.2:p.Ser303LysfsTer14
ENST00000700182.1:c.950_951insGAAA	ENSP00000514849.1:p.Ser318LysfsTer14
ENST00000357654.9:c.4340_4341insGAAA MANE Select	ENSP00000350283.3:p.Ser1448LysfsTer15
ENST00000471181.7:c.4340_4341insGAAA	ENSP00000418960.2:p.Ser1448LysfsTer21
ENST00000644379.1:c.661_662insGAAA
ENST00000352993.7:c.914_915insGAAA	ENSP00000312236.5:p.Ser306LysfsTer15
ENST00000357654.7:c.4340_4341insGAAA	ENSP00000350283.3:p.Ser1448LysfsTer15
ENST00000461221.5:c.*4123_*4124insGAAA	ENSP00000418548.1:n.*4123_*4124insGAAA
ENST00000461574.1:c.634_635insGAAA
ENST00000468300.5:c.1031_1032insGAAA	ENSP00000417148.1:p.Ser345LysfsTer14
ENST00000471181.6:c.4340_4341insGAAA	ENSP00000418960.2:p.Ser1448LysfsTer21
ENST00000478531.5:c.1028_1029insGAAA	ENSP00000420412.1:p.Ser344LysfsTer15
ENST00000484087.5:c.653_654insGAAA	ENSP00000419481.1:p.Ser219LysfsTer15
ENST00000487825.5:c.656_657insGAAA	ENSP00000418212.1:p.Ser220LysfsTer15
ENST00000491747.6:c.1031_1032insGAAA	ENSP00000420705.2:p.Ser345LysfsTer14
ENST00000493795.5:c.4199_4200insGAAA	ENSP00000418775.1:p.Ser1401LysfsTer15
ENST00000493919.5:c.890_891insGAAA	ENSP00000418819.1:p.Ser298LysfsTer15
ENST00000586385.5:c.5-18470_5-18469insGAAA	ENSP00000465818.1:n.5-18470_5-18469insGAAA
ENST00000591534.5:c.-43-7900_-43-7899insGAAA	ENSP00000467329.1:n.-43-7900_-43-7899insGAAA
ENST00000591849.5:c.-98-32231_-98-32230insGAAA	ENSP00000465347.1:n.-98-32231_-98-32230insGAAA
ENST00000621897.1:n.234_235insGAAA
NM_007294.3:c.4340_4341insGAAA , LRG_292t1:c.4340_4341insGAAA	NP_009225.1:p.Ser1448LysfsTer15
NM_007297.3:c.4199_4200insGAAA	NP_009228.2:p.Ser1401LysfsTer15
NM_007298.3:c.1031_1032insGAAA	NP_009229.2:p.Ser345LysfsTer14
NM_007299.3:c.1031_1032insGAAA	NP_009230.2:p.Ser345LysfsTer14
NM_007300.3:c.4340_4341insGAAA	NP_009231.2:p.Ser1448LysfsTer21
NR_027676.1:n.4476_4477insGAAA
NM_007294.4:c.4340_4341insGAAA MANE Select	NP_009225.1:p.Ser1448LysfsTer15
NM_007297.4:c.4199_4200insGAAA	NP_009228.2:p.Ser1401LysfsTer15
NM_007299.4:c.1031_1032insGAAA	NP_009230.2:p.Ser345LysfsTer14
NM_007300.4:c.4340_4341insGAAA	NP_009231.2:p.Ser1448LysfsTer21
NR_027676.2:n.4517_4518insGAAA