Canonical Allele Identifier: CA003322

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063349_43063350del , CM000679.2:g.43063349_43063350del	GRCh38
NC_000017.10:g.41215366_41215367del , CM000679.1:g.41215366_41215367del	GRCh37
NC_000017.9:g.38468892_38468893del	NCBI36
NG_005905.2:g.154635_154636del , LRG_292:g.154635_154636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5174_5175del	ENSP00000417241.2:p.Arg1725LysfsTer5
ENST00000470026.6:c.5177_5178del	ENSP00000419274.2:p.Arg1726LysfsTer5
ENST00000473961.6:c.5051_5052del	ENSP00000420201.2:p.Arg1684LysfsTer5
ENST00000476777.6:c.5171_5172del	ENSP00000417554.2:p.Arg1724LysfsTer5
ENST00000477152.6:c.5099_5100del	ENSP00000419988.2:p.Arg1700LysfsTer5
ENST00000478531.6:c.1865_1866del	ENSP00000420412.2:p.Arg622LysfsTer5
ENST00000489037.2:c.5099_5100del	ENSP00000420781.2:p.Arg1700LysfsTer5
ENST00000493919.6:c.1727_1728del	ENSP00000418819.2:p.Arg576LysfsTer5
ENST00000494123.6:c.5177_5178del	ENSP00000419103.2:p.Arg1726LysfsTer5
ENST00000497488.2:c.4289_4290del	ENSP00000418986.2:p.Arg1430LysfsTer5
ENST00000618469.2:c.5177_5178del	ENSP00000478114.2:p.Arg1726LysfsTer5
ENST00000634433.2:c.5054_5055del	ENSP00000489431.2:p.Arg1685LysfsTer5
ENST00000644379.2:c.5243_5244del	ENSP00000496570.2:p.Arg1748LysfsTer5
ENST00000644555.2:c.1727_1728del	ENSP00000494614.2:p.Arg576LysfsTer5
ENST00000652672.2:c.5036_5037del	ENSP00000498906.2:p.Arg1679LysfsTer5
ENST00000484087.6:c.1739_1740del	ENSP00000419481.2:p.Arg580LysfsTer5
ENST00000357654.9:c.5177_5178del MANE Select	ENSP00000350283.3:p.Arg1726LysfsTer5
ENST00000471181.7:c.5240_5241del	ENSP00000418960.2:p.Arg1747LysfsTer5
ENST00000644379.1:c.1564_1565del
ENST00000352993.7:c.1751_1752del	ENSP00000312236.5:p.Arg584LysfsTer5
ENST00000357654.7:c.5177_5178del	ENSP00000350283.3:p.Arg1726LysfsTer5
ENST00000461221.5:c.*4960_*4961del	ENSP00000418548.1:n.*4960_*4961del
ENST00000468300.5:c.1865_1866del	ENSP00000417148.1:p.Arg622LysfsTer5
ENST00000471181.6:c.5240_5241del	ENSP00000418960.2:p.Arg1747LysfsTer5
ENST00000478531.5:c.1865_1866del	ENSP00000420412.1:p.Arg622LysfsTer?
ENST00000484087.5:c.1490_1491del	ENSP00000419481.1:p.Arg497LysfsTer?
ENST00000491747.6:c.1865_1866del	ENSP00000420705.2:p.Arg622LysfsTer5
ENST00000493795.5:c.5036_5037del	ENSP00000418775.1:p.Arg1679LysfsTer5
ENST00000586385.5:c.107_108del	ENSP00000465818.1:p.Arg36LysfsTer5
ENST00000591534.5:c.650_651del	ENSP00000467329.1:p.Arg217LysfsTer5
ENST00000591849.5:c.-98-13159_-98-13158del	ENSP00000465347.1:n.-98-13159_-98-13158del
NM_007294.3:c.5177_5178del , LRG_292t1:c.5177_5178del	NP_009225.1:p.Arg1726LysfsTer5
NM_007297.3:c.5036_5037del	NP_009228.2:p.Arg1679LysfsTer5
NM_007298.3:c.1865_1866del	NP_009229.2:p.Arg622LysfsTer5
NM_007299.3:c.1865_1866del	NP_009230.2:p.Arg622LysfsTer5
NM_007300.3:c.5240_5241del	NP_009231.2:p.Arg1747LysfsTer5
NR_027676.1:n.5313_5314del
NM_007294.4:c.5177_5178del MANE Select	NP_009225.1:p.Arg1726LysfsTer5
NM_007297.4:c.5036_5037del	NP_009228.2:p.Arg1679LysfsTer5
NM_007299.4:c.1865_1866del	NP_009230.2:p.Arg622LysfsTer5
NM_007300.4:c.5240_5241del	NP_009231.2:p.Arg1747LysfsTer5
NR_027676.2:n.5354_5355del