Canonical Allele Identifier: CA2695226115

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051072del , CM000679.2:g.43051072del	GRCh38
NC_000017.10:g.41203089del , CM000679.1:g.41203089del	GRCh37
NC_000017.9:g.38456615del	NCBI36
NG_005905.2:g.166912del , LRG_292:g.166912del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5320del	ENSP00000417241.2:p.Met1774CysfsTer18
ENST00000470026.6:c.5323del	ENSP00000419274.2:p.Met1775CysfsTer18
ENST00000473961.6:c.5197del	ENSP00000420201.2:p.Met1733CysfsTer18
ENST00000476777.6:c.5317del	ENSP00000417554.2:p.Met1773CysfsTer18
ENST00000477152.6:c.5245del	ENSP00000419988.2:p.Met1749CysfsTer18
ENST00000478531.6:c.2011del	ENSP00000420412.2:p.Met671CysfsTer18
ENST00000489037.2:c.5245del	ENSP00000420781.2:p.Met1749CysfsTer18
ENST00000493919.6:c.1873del	ENSP00000418819.2:p.Met625CysfsTer18
ENST00000494123.6:c.5323del	ENSP00000419103.2:p.Met1775CysfsTer18
ENST00000497488.2:c.4435del	ENSP00000418986.2:p.Met1479CysfsTer18
ENST00000618469.2:c.5323del	ENSP00000478114.2:p.Met1775CysfsTer18
ENST00000634433.2:c.5200del	ENSP00000489431.2:p.Met1734CysfsTer18
ENST00000644379.2:c.5389del	ENSP00000496570.2:p.Met1797CysfsTer18
ENST00000644555.2:c.1873del	ENSP00000494614.2:p.Met625CysfsTer18
ENST00000652672.2:c.5182del	ENSP00000498906.2:p.Met1728CysfsTer18
ENST00000484087.6:c.1885del	ENSP00000419481.2:p.Met629CysfsTer18
ENST00000357654.9:c.5323del MANE Select	ENSP00000350283.3:p.Met1775CysfsTer18
ENST00000471181.7:c.5386del	ENSP00000418960.2:p.Met1796CysfsTer18
ENST00000644379.1:c.1710del
ENST00000352993.7:c.1897del	ENSP00000312236.5:p.Met633CysfsTer18
ENST00000357654.7:c.5323del	ENSP00000350283.3:p.Met1775CysfsTer18
ENST00000461221.5:c.*5106del	ENSP00000418548.1:n.*5106del
ENST00000468300.5:c.2011del	ENSP00000417148.1:p.Met671CysfsTer?
ENST00000471181.6:c.5386del	ENSP00000418960.2:p.Met1796CysfsTer18
ENST00000491747.6:c.2011del	ENSP00000420705.2:p.Met671CysfsTer18
ENST00000493795.5:c.5182del	ENSP00000418775.1:p.Met1728CysfsTer18
ENST00000586385.5:c.253del	ENSP00000465818.1:p.Met85CysfsTer18
ENST00000591534.5:c.796del	ENSP00000467329.1:p.Met266CysfsTer18
ENST00000591849.5:c.-98-882del	ENSP00000465347.1:n.-98-882del
NM_007294.3:c.5323del , LRG_292t1:c.5323del	NP_009225.1:p.Met1775CysfsTer18
NM_007297.3:c.5182del	NP_009228.2:p.Met1728CysfsTer18
NM_007298.3:c.2011del	NP_009229.2:p.Met671CysfsTer18
NM_007299.3:c.2011del	NP_009230.2:p.Met671CysfsTer?
NM_007300.3:c.5386del	NP_009231.2:p.Met1796CysfsTer18
NR_027676.1:n.5459del
NM_007294.4:c.5323del MANE Select	NP_009225.1:p.Met1775CysfsTer18
NM_007297.4:c.5182del	NP_009228.2:p.Met1728CysfsTer18
NM_007299.4:c.2011del	NP_009230.2:p.Met671CysfsTer?
NM_007300.4:c.5386del	NP_009231.2:p.Met1796CysfsTer18
NR_027676.2:n.5500del