Canonical Allele Identifier: CA2695226100

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045729dup , CM000679.2:g.43045729dup	GRCh38
NC_000017.10:g.41197746dup , CM000679.1:g.41197746dup	GRCh37
NC_000017.9:g.38451272dup	NCBI36
NG_005905.2:g.172256dup , LRG_292:g.172256dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5539dup	ENSP00000417241.2:p.Gln1847ProfsTer?
ENST00000470026.6:c.5542dup	ENSP00000419274.2:p.Gln1848ProfsTer?
ENST00000473961.6:c.5416dup	ENSP00000420201.2:p.Gln1806ProfsTer?
ENST00000476777.6:c.5536dup	ENSP00000417554.2:p.Gln1846ProfsTer?
ENST00000477152.6:c.5464dup	ENSP00000419988.2:p.Gln1822ProfsTer?
ENST00000478531.6:c.2230dup	ENSP00000420412.2:p.Gln744ProfsTer?
ENST00000489037.2:c.5464dup	ENSP00000420781.2:p.Gln1822ProfsTer?
ENST00000493919.6:c.2092dup	ENSP00000418819.2:p.Gln698ProfsTer?
ENST00000494123.6:c.5542dup	ENSP00000419103.2:p.Gln1848ProfsTer?
ENST00000497488.2:c.4654dup	ENSP00000418986.2:p.Gln1552ProfsTer?
ENST00000618469.2:c.5542dup	ENSP00000478114.2:p.Gln1848ProfsTer?
ENST00000634433.2:c.5419dup	ENSP00000489431.2:p.Gln1807ProfsTer?
ENST00000644379.2:c.5608dup	ENSP00000496570.2:p.Gln1870ProfsTer?
ENST00000644555.2:c.2092dup	ENSP00000494614.2:p.Gln698ProfsTer?
ENST00000652672.2:c.5401dup	ENSP00000498906.2:p.Gln1801ProfsTer?
ENST00000484087.6:c.2104dup	ENSP00000419481.2:p.Gln702ProfsTer?
ENST00000700081.1:n.1425dup
ENST00000700082.1:n.906dup
ENST00000357654.9:c.5542dup MANE Select	ENSP00000350283.3:p.Gln1848ProfsTer?
ENST00000471181.7:c.5605dup	ENSP00000418960.2:p.Gln1869ProfsTer?
ENST00000644379.1:c.1929dup
ENST00000352993.7:c.2116dup	ENSP00000312236.5:p.Gln706ProfsTer?
ENST00000357654.7:c.5542dup	ENSP00000350283.3:p.Gln1848ProfsTer?
ENST00000461221.5:c.*5325dup	ENSP00000418548.1:n.*5325dup
ENST00000468300.5:c.*56dup	ENSP00000417148.1:n.*56dup
ENST00000471181.6:c.5605dup	ENSP00000418960.2:p.Gln1869ProfsTer?
ENST00000491747.6:c.2230dup	ENSP00000420705.2:p.Gln744ProfsTer?
ENST00000493795.5:c.5401dup	ENSP00000418775.1:p.Gln1801ProfsTer?
ENST00000586385.5:c.472dup	ENSP00000465818.1:p.Gln158ProfsTer?
ENST00000591534.5:c.1015dup	ENSP00000467329.1:p.Gln339ProfsTer?
ENST00000591849.5:c.241dup	ENSP00000465347.1:p.Gln81ProfsTer?
NM_007294.3:c.5542dup , LRG_292t1:c.5542dup	NP_009225.1:p.Gln1848ProfsTer?
NM_007297.3:c.5401dup	NP_009228.2:p.Gln1801ProfsTer?
NM_007298.3:c.2230dup	NP_009229.2:p.Gln744ProfsTer?
NM_007299.3:c.*56dup	NP_009230.2:n.*56dup
NM_007300.3:c.5605dup	NP_009231.2:p.Gln1869ProfsTer?
NR_027676.1:n.5678dup
NM_007294.4:c.5542dup MANE Select	NP_009225.1:p.Gln1848ProfsTer?
NM_007297.4:c.5401dup	NP_009228.2:p.Gln1801ProfsTer?
NM_007299.4:c.*56dup	NP_009230.2:n.*56dup
NM_007300.4:c.5605dup	NP_009231.2:p.Gln1869ProfsTer?
NR_027676.2:n.5719dup