Canonical Allele Identifier: CA2260781598

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43090905_43090925delinsCCACACACACGCATGTGCACA , CM000679.2:g.43090905_43090925delinsCCACACACACGCATGTGCACA	GRCh38
NC_000017.10:g.41242922_41242942delinsCCACACACACGCATGTGCACA , CM000679.1:g.41242922_41242942delinsCCACACACACGCATGTGCACA	GRCh37
NC_000017.9:g.38496448_38496468delinsCCACACACACGCATGTGCACA	NCBI36
NG_005905.2:g.127059_127079delinsTGTGCACATGCGTGTGTGTGG , LRG_292:g.127059_127079delinsTGTGCACATGCGTGTGTGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000417241.2:n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000470026.6:c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000419274.2:n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000473961.6:c.4059+19_4059+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000420201.2:n.4059+19_4059+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000476777.6:c.4182+19_4182+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000417554.2:n.4182+19_4182+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000477152.6:c.4107+19_4107+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000419988.2:n.4107+19_4107+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000478531.6:c.873+19_873+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000420412.2:n.873+19_873+39delinsTGTGCACATGCGTGTGTGTGG
ENST00000489037.2:c.4107+19_4107+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000420781.2:n.4107+19_4107+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000493919.6:c.735+19_735+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000418819.2:n.735+19_735+39delinsTGTGCACATGCGTGTGTGTGG
ENST00000494123.6:c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000419103.2:n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000497488.2:c.3297+19_3297+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000418986.2:n.3297+19_3297+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000618469.2:c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000478114.2:n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000634433.2:c.4062+19_4062+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000489431.2:n.4062+19_4062+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000644379.2:c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000496570.2:n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000644555.2:c.735+19_735+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000494614.2:n.735+19_735+39delinsTGTGCACATGCGTGTGTGTGG
ENST00000652672.2:c.4044+19_4044+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000498906.2:n.4044+19_4044+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000484087.6:c.753+19_753+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000419481.2:n.753+19_753+39delinsTGTGCACATGCGTGTGTGTGG
ENST00000700182.1:c.795+19_795+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000514849.1:n.795+19_795+39delinsTGTGCACATGCGTGTGTGTGG
ENST00000357654.9:c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG MANE Select	ENSP00000350283.3:n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000471181.7:c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000418960.2:n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000644379.1:c.506+19_506+39delinsTGTGCACATGCGTGTGTGTGG
ENST00000352993.7:c.759+19_759+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000312236.5:n.759+19_759+39delinsTGTGCACATGCGTGTGTGTGG
ENST00000357654.7:c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000350283.3:n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000461221.5:c.*3968+19_*3968+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000418548.1:n.*3968+19_*3968+39delinsTGTGCACATGCGTGTGTG...
ENST00000461574.1:c.479+19_479+39delinsTGTGCACATGCGTGTGTGTGG
ENST00000468300.5:c.876+19_876+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000417148.1:n.876+19_876+39delinsTGTGCACATGCGTGTGTGTGG
ENST00000471181.6:c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000418960.2:n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000478531.5:c.873+19_873+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000420412.1:n.873+19_873+39delinsTGTGCACATGCGTGTGTGTGG
ENST00000484087.5:c.498+19_498+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000419481.1:n.498+19_498+39delinsTGTGCACATGCGTGTGTGTGG
ENST00000487825.5:c.501+19_501+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000418212.1:n.501+19_501+39delinsTGTGCACATGCGTGTGTGTGG
ENST00000491747.6:c.876+19_876+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000420705.2:n.876+19_876+39delinsTGTGCACATGCGTGTGTGTGG
ENST00000493795.5:c.4044+19_4044+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000418775.1:n.4044+19_4044+39delinsTGTGCACATGCGTGTGTGTG...
ENST00000493919.5:c.735+19_735+39delinsTGTGCACATGCGTGTGTGTGG	ENSP00000418819.1:n.735+19_735+39delinsTGTGCACATGCGTGTGTGTGG
ENST00000586385.5:c.5-26974_5-26954delinsTGTGCACATGCGTGTGTGTGG	ENSP00000465818.1:n.5-26974_5-26954delinsTGTGCACATGCGTGTGTGTG...
ENST00000591534.5:c.-43-16404_-43-16384delinsTGTGCACATGCGTGTGTGTGG	ENSP00000467329.1:n.-43-16404_-43-16384delinsTGTGCACATGCGTGTG...
ENST00000591849.5:c.-99+34346_-99+34366delinsTGTGCACATGCGTGTGTGTGG	ENSP00000465347.1:n.-99+34346_-99+34366delinsTGTGCACATGCGTGTG...
NM_007294.3:c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG , LRG_292t1:c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG	NP_009225.1:n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG
NM_007297.3:c.4044+19_4044+39delinsTGTGCACATGCGTGTGTGTGG	NP_009228.2:n.4044+19_4044+39delinsTGTGCACATGCGTGTGTGTGG
NM_007298.3:c.876+19_876+39delinsTGTGCACATGCGTGTGTGTGG	NP_009229.2:n.876+19_876+39delinsTGTGCACATGCGTGTGTGTGG
NM_007299.3:c.876+19_876+39delinsTGTGCACATGCGTGTGTGTGG	NP_009230.2:n.876+19_876+39delinsTGTGCACATGCGTGTGTGTGG
NM_007300.3:c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG	NP_009231.2:n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG
NR_027676.1:n.4321+19_4321+39delinsTGTGCACATGCGTGTGTGTGG
NM_007294.4:c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG MANE Select	NP_009225.1:n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG
NM_007297.4:c.4044+19_4044+39delinsTGTGCACATGCGTGTGTGTGG	NP_009228.2:n.4044+19_4044+39delinsTGTGCACATGCGTGTGTGTGG
NM_007299.4:c.876+19_876+39delinsTGTGCACATGCGTGTGTGTGG	NP_009230.2:n.876+19_876+39delinsTGTGCACATGCGTGTGTGTGG
NM_007300.4:c.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG	NP_009231.2:n.4185+19_4185+39delinsTGTGCACATGCGTGTGTGTGG
NR_027676.2:n.4362+19_4362+39delinsTGTGCACATGCGTGTGTGTGG