Canonical Allele Identifier: CA501073

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082448del , CM000679.2:g.43082448del	GRCh38
NC_000017.10:g.41234465del , CM000679.1:g.41234465del	GRCh37
NC_000017.9:g.38487991del	NCBI36
NG_005905.2:g.135538del , LRG_292:g.135538del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4315del	ENSP00000417241.2:p.Glu1440ArgfsTer15
ENST00000470026.6:c.4315del	ENSP00000419274.2:p.Glu1440ArgfsTer16
ENST00000473961.6:c.4189del	ENSP00000420201.2:p.Glu1398ArgfsTer16
ENST00000476777.6:c.4309del	ENSP00000417554.2:p.Glu1438ArgfsTer16
ENST00000477152.6:c.4237del	ENSP00000419988.2:p.Glu1414ArgfsTer16
ENST00000478531.6:c.1003del	ENSP00000420412.2:p.Glu336ArgfsTer16
ENST00000489037.2:c.4237del	ENSP00000420781.2:p.Glu1414ArgfsTer16
ENST00000493919.6:c.865del	ENSP00000418819.2:p.Glu290ArgfsTer16
ENST00000494123.6:c.4315del	ENSP00000419103.2:p.Glu1440ArgfsTer16
ENST00000497488.2:c.3427del	ENSP00000418986.2:p.Glu1144ArgfsTer16
ENST00000618469.2:c.4315del	ENSP00000478114.2:p.Glu1440ArgfsTer16
ENST00000634433.2:c.4192del	ENSP00000489431.2:p.Glu1399ArgfsTer16
ENST00000644379.2:c.4315del	ENSP00000496570.2:p.Glu1440ArgfsTer?
ENST00000644555.2:c.865del	ENSP00000494614.2:p.Glu290ArgfsTer16
ENST00000652672.2:c.4174del	ENSP00000498906.2:p.Glu1393ArgfsTer16
ENST00000484087.6:c.880del	ENSP00000419481.2:p.Glu295ArgfsTer15
ENST00000700182.1:c.925del	ENSP00000514849.1:p.Glu310ArgfsTer15
ENST00000357654.9:c.4315del MANE Select	ENSP00000350283.3:p.Glu1440ArgfsTer16
ENST00000471181.7:c.4315del	ENSP00000418960.2:p.Glu1440ArgfsTer?
ENST00000644379.1:c.636del
ENST00000352993.7:c.889del	ENSP00000312236.5:p.Glu298ArgfsTer16
ENST00000357654.7:c.4315del	ENSP00000350283.3:p.Glu1440ArgfsTer16
ENST00000461221.5:c.*4098del	ENSP00000418548.1:n.*4098del
ENST00000461574.1:c.609del
ENST00000468300.5:c.1006del	ENSP00000417148.1:p.Glu337ArgfsTer15
ENST00000471181.6:c.4315del	ENSP00000418960.2:p.Glu1440ArgfsTer?
ENST00000478531.5:c.1003del	ENSP00000420412.1:p.Glu336ArgfsTer16
ENST00000484087.5:c.628del	ENSP00000419481.1:p.Glu211ArgfsTer16
ENST00000487825.5:c.631del	ENSP00000418212.1:p.Glu212ArgfsTer16
ENST00000491747.6:c.1006del	ENSP00000420705.2:p.Glu337ArgfsTer15
ENST00000493795.5:c.4174del	ENSP00000418775.1:p.Glu1393ArgfsTer16
ENST00000493919.5:c.865del	ENSP00000418819.1:p.Glu290ArgfsTer16
ENST00000586385.5:c.5-18495del	ENSP00000465818.1:n.5-18495del
ENST00000591534.5:c.-43-7925del	ENSP00000467329.1:n.-43-7925del
ENST00000591849.5:c.-98-32256del	ENSP00000465347.1:n.-98-32256del
ENST00000621897.1:n.209del
NM_007294.3:c.4315del , LRG_292t1:c.4315del	NP_009225.1:p.Glu1440ArgfsTer16
NM_007297.3:c.4174del	NP_009228.2:p.Glu1393ArgfsTer16
NM_007298.3:c.1006del	NP_009229.2:p.Glu337ArgfsTer15
NM_007299.3:c.1006del	NP_009230.2:p.Glu337ArgfsTer15
NM_007300.3:c.4315del	NP_009231.2:p.Glu1440ArgfsTer?
NR_027676.1:n.4451del
NM_007294.4:c.4315del MANE Select	NP_009225.1:p.Glu1440ArgfsTer16
NM_007297.4:c.4174del	NP_009228.2:p.Glu1393ArgfsTer16
NM_007299.4:c.1006del	NP_009230.2:p.Glu337ArgfsTer15
NM_007300.4:c.4315del	NP_009231.2:p.Glu1440ArgfsTer?
NR_027676.2:n.4492del