Canonical Allele Identifier: CA2260785340

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094854_43094855delinsCA , CM000679.2:g.43094854_43094855delinsCA	GRCh38
NC_000017.10:g.41246871_41246872delinsCA , CM000679.1:g.41246871_41246872delinsCA	GRCh37
NC_000017.9:g.38500397_38500398delinsCA	NCBI36
NG_005905.2:g.123129_123130delinsTG , LRG_292:g.123129_123130delinsTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.740_741delinsTG
ENST00000461574.2:c.676_677delinsTG	ENSP00000417241.2:p.Cys226=
ENST00000470026.6:c.676_677delinsTG	ENSP00000419274.2:p.Cys226=
ENST00000473961.6:c.550_551delinsTG	ENSP00000420201.2:p.Cys184=
ENST00000476777.6:c.673_674delinsTG	ENSP00000417554.2:p.Cys225=
ENST00000477152.6:c.598_599delinsTG	ENSP00000419988.2:p.Cys200=
ENST00000478531.6:c.673_674delinsTG	ENSP00000420412.2:p.Cys225=
ENST00000489037.2:c.598_599delinsTG	ENSP00000420781.2:p.Cys200=
ENST00000493919.6:c.535_536delinsTG	ENSP00000418819.2:p.Cys179=
ENST00000494123.6:c.676_677delinsTG	ENSP00000419103.2:p.Cys226=
ENST00000497488.2:c.-213_-212delinsTG	ENSP00000418986.2:n.-213_-212delinsTG
ENST00000618469.2:c.676_677delinsTG	ENSP00000478114.2:p.Cys226=
ENST00000634433.2:c.553_554delinsTG	ENSP00000489431.2:p.Cys185=
ENST00000644379.2:c.676_677delinsTG	ENSP00000496570.2:p.Cys226=
ENST00000644555.2:c.535_536delinsTG	ENSP00000494614.2:p.Cys179=
ENST00000652672.2:c.535_536delinsTG	ENSP00000498906.2:p.Cys179=
ENST00000484087.6:c.553_554delinsTG	ENSP00000419481.2:p.Cys185=
ENST00000700182.1:c.595_596delinsTG	ENSP00000514849.1:p.Cys199=
ENST00000700183.1:c.*684_*685delinsTG	ENSP00000514850.1:n.*684_*685delinsTG
ENST00000357654.9:c.676_677delinsTG MANE Select	ENSP00000350283.3:p.Cys226=
ENST00000471181.7:c.676_677delinsTG	ENSP00000418960.2:p.Cys226=
ENST00000642945.1:c.*550_*551delinsTG	ENSP00000495897.1:n.*550_*551delinsTG
ENST00000652672.1:c.535_536delinsTG	ENSP00000498906.1:p.Cys179=
ENST00000352993.7:c.670+991_670+992delinsTG	ENSP00000312236.5:n.670+991_670+992delinsTG
ENST00000354071.7:c.676_677delinsTG	ENSP00000326002.7:p.Cys226=
ENST00000357654.7:c.676_677delinsTG	ENSP00000350283.3:p.Cys226=
ENST00000412061.3:c.27_28delinsTG
ENST00000461221.5:c.*459_*460delinsTG	ENSP00000418548.1:n.*459_*460delinsTG
ENST00000468300.5:c.676_677delinsTG	ENSP00000417148.1:p.Cys226=
ENST00000470026.5:c.676_677delinsTG	ENSP00000419274.1:p.Cys226=
ENST00000471181.6:c.676_677delinsTG	ENSP00000418960.2:p.Cys226=
ENST00000473961.5:c.273_274delinsTG
ENST00000477152.5:c.598_599delinsTG	ENSP00000419988.1:p.Cys200=
ENST00000478531.5:c.673_674delinsTG	ENSP00000420412.1:p.Cys225=
ENST00000484087.5:c.298_299delinsTG	ENSP00000419481.1:p.Cys100=
ENST00000487825.5:c.301_302delinsTG	ENSP00000418212.1:p.Cys101=
ENST00000491747.6:c.676_677delinsTG	ENSP00000420705.2:p.Cys226=
ENST00000492859.5:c.*612_*613delinsTG	ENSP00000420253.1:n.*612_*613delinsTG
ENST00000493795.5:c.535_536delinsTG	ENSP00000418775.1:p.Cys179=
ENST00000493919.5:c.535_536delinsTG	ENSP00000418819.1:p.Cys179=
ENST00000494123.5:c.676_677delinsTG	ENSP00000419103.1:p.Cys226=
ENST00000497488.1:c.-213_-212delinsTG	ENSP00000418986.1:n.-213_-212delinsTG
ENST00000586385.5:c.4+30327_4+30328delinsTG	ENSP00000465818.1:n.4+30327_4+30328delinsTG
ENST00000591534.5:c.-43-20334_-43-20333delinsTG	ENSP00000467329.1:n.-43-20334_-43-20333delinsTG
ENST00000591849.5:c.-99+30416_-99+30417delinsTG	ENSP00000465347.1:n.-99+30416_-99+30417delinsTG
ENST00000634433.1:c.553_554delinsTG	ENSP00000489431.1:p.Cys185=
NM_007294.3:c.676_677delinsTG , LRG_292t1:c.676_677delinsTG	NP_009225.1:p.Cys226=
NM_007297.3:c.535_536delinsTG	NP_009228.2:p.Cys179=
NM_007298.3:c.676_677delinsTG	NP_009229.2:p.Cys226=
NM_007299.3:c.676_677delinsTG	NP_009230.2:p.Cys226=
NM_007300.3:c.676_677delinsTG	NP_009231.2:p.Cys226=
NR_027676.1:n.812_813delinsTG
NM_007294.4:c.676_677delinsTG MANE Select	NP_009225.1:p.Cys226=
NM_007297.4:c.535_536delinsTG	NP_009228.2:p.Cys179=
NM_007299.4:c.676_677delinsTG	NP_009230.2:p.Cys226=
NM_007300.4:c.676_677delinsTG	NP_009231.2:p.Cys226=
NR_027676.2:n.853_854delinsTG