Canonical Allele Identifier: CA2499224456

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091855del , CM000679.2:g.43091855del	GRCh38
NC_000017.10:g.41243872del , CM000679.1:g.41243872del	GRCh37
NC_000017.9:g.38497398del	NCBI36
NG_005905.2:g.126130del , LRG_292:g.126130del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3741del
ENST00000461574.2:c.3677del	ENSP00000417241.2:p.Phe1226SerfsTer9
ENST00000470026.6:c.3677del	ENSP00000419274.2:p.Phe1226SerfsTer9
ENST00000473961.6:c.3551del	ENSP00000420201.2:p.Phe1184SerfsTer9
ENST00000476777.6:c.3674del	ENSP00000417554.2:p.Phe1225SerfsTer9
ENST00000477152.6:c.3599del	ENSP00000419988.2:p.Phe1200SerfsTer9
ENST00000478531.6:c.785-822del	ENSP00000420412.2:n.785-822del
ENST00000489037.2:c.3599del	ENSP00000420781.2:p.Phe1200SerfsTer9
ENST00000493919.6:c.647-822del	ENSP00000418819.2:n.647-822del
ENST00000494123.6:c.3677del	ENSP00000419103.2:p.Phe1226SerfsTer9
ENST00000497488.2:c.2789del	ENSP00000418986.2:p.Phe930SerfsTer9
ENST00000618469.2:c.3677del	ENSP00000478114.2:p.Phe1226SerfsTer9
ENST00000634433.2:c.3554del	ENSP00000489431.2:p.Phe1185SerfsTer9
ENST00000644379.2:c.3677del	ENSP00000496570.2:p.Phe1226SerfsTer9
ENST00000644555.2:c.647-822del	ENSP00000494614.2:n.647-822del
ENST00000652672.2:c.3536del	ENSP00000498906.2:p.Phe1179SerfsTer9
ENST00000484087.6:c.665-822del	ENSP00000419481.2:n.665-822del
ENST00000700182.1:c.707-822del	ENSP00000514849.1:n.707-822del
ENST00000357654.9:c.3677del MANE Select	ENSP00000350283.3:p.Phe1226SerfsTer9
ENST00000471181.7:c.3677del	ENSP00000418960.2:p.Phe1226SerfsTer9
ENST00000352993.7:c.671-822del	ENSP00000312236.5:n.671-822del
ENST00000354071.7:c.3677del	ENSP00000326002.7:p.Phe1226SerfsTer9
ENST00000357654.7:c.3677del	ENSP00000350283.3:p.Phe1226SerfsTer9
ENST00000461221.5:c.*3460del	ENSP00000418548.1:n.*3460del
ENST00000468300.5:c.788-822del	ENSP00000417148.1:n.788-822del
ENST00000471181.6:c.3677del	ENSP00000418960.2:p.Phe1226SerfsTer9
ENST00000478531.5:c.785-822del	ENSP00000420412.1:n.785-822del
ENST00000484087.5:c.410-822del	ENSP00000419481.1:n.410-822del
ENST00000487825.5:c.413-822del	ENSP00000418212.1:n.413-822del
ENST00000491747.6:c.788-822del	ENSP00000420705.2:n.788-822del
ENST00000493795.5:c.3536del	ENSP00000418775.1:p.Phe1179SerfsTer9
ENST00000493919.5:c.647-822del	ENSP00000418819.1:n.647-822del
ENST00000586385.5:c.5-27903del	ENSP00000465818.1:n.5-27903del
ENST00000591534.5:c.-43-17333del	ENSP00000467329.1:n.-43-17333del
ENST00000591849.5:c.-99+33417del	ENSP00000465347.1:n.-99+33417del
NM_007294.3:c.3677del , LRG_292t1:c.3677del	NP_009225.1:p.Phe1226SerfsTer9
NM_007297.3:c.3536del	NP_009228.2:p.Phe1179SerfsTer9
NM_007298.3:c.788-822del	NP_009229.2:n.788-822del
NM_007299.3:c.788-822del	NP_009230.2:n.788-822del
NM_007300.3:c.3677del	NP_009231.2:p.Phe1226SerfsTer9
NR_027676.1:n.3813del
NM_007294.4:c.3677del MANE Select	NP_009225.1:p.Phe1226SerfsTer9
NM_007297.4:c.3536del	NP_009228.2:p.Phe1179SerfsTer9
NM_007299.4:c.788-822del	NP_009230.2:n.788-822del
NM_007300.4:c.3677del	NP_009231.2:p.Phe1226SerfsTer9
NR_027676.2:n.3854del