Canonical Allele Identifier: CA2260781608

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090921_43090942delinsGCACACACACACACGCTTTTTA , CM000679.2:g.43090921_43090942delinsGCACACACACACACGCTTTTTA	GRCh38
NC_000017.10:g.41242938_41242959delinsGCACACACACACACGCTTTTTA , CM000679.1:g.41242938_41242959delinsGCACACACACACACGCTTTTTA	GRCh37
NC_000017.9:g.38496464_38496485delinsGCACACACACACACGCTTTTTA	NCBI36
NG_005905.2:g.127042_127063delinsTAAAAAGCGTGTGTGTGTGTGC , LRG_292:g.127042_127063delinsTAAAAAGCGTGTGTGTGTGTGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000417241.2:n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000470026.6:c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000419274.2:n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000473961.6:c.4059+2_4059+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000420201.2:n.4059+2_4059+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000476777.6:c.4182+2_4182+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000417554.2:n.4182+2_4182+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000477152.6:c.4107+2_4107+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000419988.2:n.4107+2_4107+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000478531.6:c.873+2_873+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000420412.2:n.873+2_873+23delinsTAAAAAGCGTGTGTGTGTGTGC
ENST00000489037.2:c.4107+2_4107+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000420781.2:n.4107+2_4107+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000493919.6:c.735+2_735+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000418819.2:n.735+2_735+23delinsTAAAAAGCGTGTGTGTGTGTGC
ENST00000494123.6:c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000419103.2:n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000497488.2:c.3297+2_3297+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000418986.2:n.3297+2_3297+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000618469.2:c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000478114.2:n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000634433.2:c.4062+2_4062+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000489431.2:n.4062+2_4062+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000644379.2:c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000496570.2:n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000644555.2:c.735+2_735+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000494614.2:n.735+2_735+23delinsTAAAAAGCGTGTGTGTGTGTGC
ENST00000652672.2:c.4044+2_4044+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000498906.2:n.4044+2_4044+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000484087.6:c.753+2_753+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000419481.2:n.753+2_753+23delinsTAAAAAGCGTGTGTGTGTGTGC
ENST00000700182.1:c.795+2_795+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000514849.1:n.795+2_795+23delinsTAAAAAGCGTGTGTGTGTGTGC
ENST00000357654.9:c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC MANE Select	ENSP00000350283.3:n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000471181.7:c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000418960.2:n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000644379.1:c.506+2_506+23delinsTAAAAAGCGTGTGTGTGTGTGC
ENST00000352993.7:c.759+2_759+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000312236.5:n.759+2_759+23delinsTAAAAAGCGTGTGTGTGTGTGC
ENST00000357654.7:c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000350283.3:n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000461221.5:c.*3968+2_*3968+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000418548.1:n.*3968+2_*3968+23delinsTAAAAAGCGTGTGTGTGTG...
ENST00000461574.1:c.479+2_479+23delinsTAAAAAGCGTGTGTGTGTGTGC
ENST00000468300.5:c.876+2_876+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000417148.1:n.876+2_876+23delinsTAAAAAGCGTGTGTGTGTGTGC
ENST00000471181.6:c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000418960.2:n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000478531.5:c.873+2_873+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000420412.1:n.873+2_873+23delinsTAAAAAGCGTGTGTGTGTGTGC
ENST00000484087.5:c.498+2_498+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000419481.1:n.498+2_498+23delinsTAAAAAGCGTGTGTGTGTGTGC
ENST00000487825.5:c.501+2_501+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000418212.1:n.501+2_501+23delinsTAAAAAGCGTGTGTGTGTGTGC
ENST00000491747.6:c.876+2_876+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000420705.2:n.876+2_876+23delinsTAAAAAGCGTGTGTGTGTGTGC
ENST00000493795.5:c.4044+2_4044+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000418775.1:n.4044+2_4044+23delinsTAAAAAGCGTGTGTGTGTGTG...
ENST00000493919.5:c.735+2_735+23delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000418819.1:n.735+2_735+23delinsTAAAAAGCGTGTGTGTGTGTGC
ENST00000586385.5:c.5-26991_5-26970delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000465818.1:n.5-26991_5-26970delinsTAAAAAGCGTGTGTGTGTGT...
ENST00000591534.5:c.-43-16421_-43-16400delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000467329.1:n.-43-16421_-43-16400delinsTAAAAAGCGTGTGTGT...
ENST00000591849.5:c.-99+34329_-99+34350delinsTAAAAAGCGTGTGTGTGTGTGC	ENSP00000465347.1:n.-99+34329_-99+34350delinsTAAAAAGCGTGTGTGT...
NM_007294.3:c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC , LRG_292t1:c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC	NP_009225.1:n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC
NM_007297.3:c.4044+2_4044+23delinsTAAAAAGCGTGTGTGTGTGTGC	NP_009228.2:n.4044+2_4044+23delinsTAAAAAGCGTGTGTGTGTGTGC
NM_007298.3:c.876+2_876+23delinsTAAAAAGCGTGTGTGTGTGTGC	NP_009229.2:n.876+2_876+23delinsTAAAAAGCGTGTGTGTGTGTGC
NM_007299.3:c.876+2_876+23delinsTAAAAAGCGTGTGTGTGTGTGC	NP_009230.2:n.876+2_876+23delinsTAAAAAGCGTGTGTGTGTGTGC
NM_007300.3:c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC	NP_009231.2:n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC
NR_027676.1:n.4321+2_4321+23delinsTAAAAAGCGTGTGTGTGTGTGC
NM_007294.4:c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC MANE Select	NP_009225.1:n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC
NM_007297.4:c.4044+2_4044+23delinsTAAAAAGCGTGTGTGTGTGTGC	NP_009228.2:n.4044+2_4044+23delinsTAAAAAGCGTGTGTGTGTGTGC
NM_007299.4:c.876+2_876+23delinsTAAAAAGCGTGTGTGTGTGTGC	NP_009230.2:n.876+2_876+23delinsTAAAAAGCGTGTGTGTGTGTGC
NM_007300.4:c.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC	NP_009231.2:n.4185+2_4185+23delinsTAAAAAGCGTGTGTGTGTGTGC
NR_027676.2:n.4362+2_4362+23delinsTAAAAAGCGTGTGTGTGTGTGC