Canonical Allele Identifier: CA2739290976

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063878dup , CM000679.2:g.43063878dup	GRCh38
NC_000017.10:g.41215895dup , CM000679.1:g.41215895dup	GRCh37
NC_000017.9:g.38469421dup	NCBI36
NG_005905.2:g.154108dup , LRG_292:g.154108dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5147dup	ENSP00000417241.2:p.Trp1717LeufsTer7
ENST00000470026.6:c.5150dup	ENSP00000419274.2:p.Trp1718LeufsTer7
ENST00000473961.6:c.5024dup	ENSP00000420201.2:p.Trp1676LeufsTer7
ENST00000476777.6:c.5144dup	ENSP00000417554.2:p.Trp1716LeufsTer7
ENST00000477152.6:c.5072dup	ENSP00000419988.2:p.Trp1692LeufsTer7
ENST00000478531.6:c.1838dup	ENSP00000420412.2:p.Trp614LeufsTer7
ENST00000489037.2:c.5072dup	ENSP00000420781.2:p.Trp1692LeufsTer7
ENST00000493919.6:c.1700dup	ENSP00000418819.2:p.Trp568LeufsTer7
ENST00000494123.6:c.5150dup	ENSP00000419103.2:p.Trp1718LeufsTer7
ENST00000497488.2:c.4262dup	ENSP00000418986.2:p.Trp1422LeufsTer7
ENST00000618469.2:c.5150dup	ENSP00000478114.2:p.Trp1718LeufsTer7
ENST00000634433.2:c.5027dup	ENSP00000489431.2:p.Trp1677LeufsTer7
ENST00000644379.2:c.5216dup	ENSP00000496570.2:p.Trp1740LeufsTer7
ENST00000644555.2:c.1700dup	ENSP00000494614.2:p.Trp568LeufsTer7
ENST00000652672.2:c.5009dup	ENSP00000498906.2:p.Trp1671LeufsTer7
ENST00000484087.6:c.1712dup	ENSP00000419481.2:p.Trp572LeufsTer7
ENST00000357654.9:c.5150dup MANE Select	ENSP00000350283.3:p.Trp1718LeufsTer7
ENST00000471181.7:c.5213dup	ENSP00000418960.2:p.Trp1739LeufsTer7
ENST00000644379.1:c.1537dup
ENST00000352993.7:c.1724dup	ENSP00000312236.5:p.Trp576LeufsTer7
ENST00000357654.7:c.5150dup	ENSP00000350283.3:p.Trp1718LeufsTer7
ENST00000461221.5:c.*4933dup	ENSP00000418548.1:n.*4933dup
ENST00000468300.5:c.1838dup	ENSP00000417148.1:p.Trp614LeufsTer7
ENST00000471181.6:c.5213dup	ENSP00000418960.2:p.Trp1739LeufsTer7
ENST00000478531.5:c.1838dup	ENSP00000420412.1:p.Trp614LeufsTer7
ENST00000484087.5:c.1463dup	ENSP00000419481.1:p.Trp489LeufsTer7
ENST00000491747.6:c.1838dup	ENSP00000420705.2:p.Trp614LeufsTer7
ENST00000493795.5:c.5009dup	ENSP00000418775.1:p.Trp1671LeufsTer7
ENST00000493919.5:c.1700dup	ENSP00000418819.1:p.Trp568LeufsTer?
ENST00000586385.5:c.80dup	ENSP00000465818.1:p.Trp28LeufsTer7
ENST00000591534.5:c.623dup	ENSP00000467329.1:p.Trp209LeufsTer7
ENST00000591849.5:c.-98-13686dup	ENSP00000465347.1:n.-98-13686dup
NM_007294.3:c.5150dup , LRG_292t1:c.5150dup	NP_009225.1:p.Trp1718LeufsTer7
NM_007297.3:c.5009dup	NP_009228.2:p.Trp1671LeufsTer7
NM_007298.3:c.1838dup	NP_009229.2:p.Trp614LeufsTer7
NM_007299.3:c.1838dup	NP_009230.2:p.Trp614LeufsTer7
NM_007300.3:c.5213dup	NP_009231.2:p.Trp1739LeufsTer7
NR_027676.1:n.5286dup
NM_007294.4:c.5150dup MANE Select	NP_009225.1:p.Trp1718LeufsTer7
NM_007297.4:c.5009dup	NP_009228.2:p.Trp1671LeufsTer7
NM_007299.4:c.1838dup	NP_009230.2:p.Trp614LeufsTer7
NM_007300.4:c.5213dup	NP_009231.2:p.Trp1739LeufsTer7
NR_027676.2:n.5327dup