Canonical Allele Identifier: CA2499224421

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082418del , CM000679.2:g.43082418del	GRCh38
NC_000017.10:g.41234435del , CM000679.1:g.41234435del	GRCh37
NC_000017.9:g.38487961del	NCBI36
NG_005905.2:g.135566del , LRG_292:g.135566del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4343del	ENSP00000417241.2:p.Ser1448ThrfsTer7
ENST00000470026.6:c.4343del	ENSP00000419274.2:p.Ser1448ThrfsTer8
ENST00000473961.6:c.4217del	ENSP00000420201.2:p.Ser1406ThrfsTer8
ENST00000476777.6:c.4337del	ENSP00000417554.2:p.Ser1446ThrfsTer8
ENST00000477152.6:c.4265del	ENSP00000419988.2:p.Ser1422ThrfsTer8
ENST00000478531.6:c.1031del	ENSP00000420412.2:p.Ser344ThrfsTer8
ENST00000489037.2:c.4265del	ENSP00000420781.2:p.Ser1422ThrfsTer8
ENST00000493919.6:c.893del	ENSP00000418819.2:p.Ser298ThrfsTer8
ENST00000494123.6:c.4343del	ENSP00000419103.2:p.Ser1448ThrfsTer8
ENST00000497488.2:c.3455del	ENSP00000418986.2:p.Ser1152ThrfsTer8
ENST00000618469.2:c.4343del	ENSP00000478114.2:p.Ser1448ThrfsTer8
ENST00000634433.2:c.4220del	ENSP00000489431.2:p.Ser1407ThrfsTer8
ENST00000644379.2:c.4343del	ENSP00000496570.2:p.Ser1448ThrfsTer30
ENST00000644555.2:c.893del	ENSP00000494614.2:p.Ser298ThrfsTer8
ENST00000652672.2:c.4202del	ENSP00000498906.2:p.Ser1401ThrfsTer8
ENST00000484087.6:c.908del	ENSP00000419481.2:p.Ser303ThrfsTer7
ENST00000700182.1:c.953del	ENSP00000514849.1:p.Ser318ThrfsTer7
ENST00000357654.9:c.4343del MANE Select	ENSP00000350283.3:p.Ser1448ThrfsTer8
ENST00000471181.7:c.4343del	ENSP00000418960.2:p.Ser1448ThrfsTer29
ENST00000644379.1:c.664del
ENST00000352993.7:c.917del	ENSP00000312236.5:p.Ser306ThrfsTer8
ENST00000357654.7:c.4343del	ENSP00000350283.3:p.Ser1448ThrfsTer8
ENST00000461221.5:c.*4126del	ENSP00000418548.1:n.*4126del
ENST00000461574.1:c.637del
ENST00000468300.5:c.1034del	ENSP00000417148.1:p.Ser345ThrfsTer7
ENST00000471181.6:c.4343del	ENSP00000418960.2:p.Ser1448ThrfsTer29
ENST00000478531.5:c.1031del	ENSP00000420412.1:p.Ser344ThrfsTer8
ENST00000484087.5:c.656del	ENSP00000419481.1:p.Ser219ThrfsTer8
ENST00000487825.5:c.659del	ENSP00000418212.1:p.Ser220ThrfsTer8
ENST00000491747.6:c.1034del	ENSP00000420705.2:p.Ser345ThrfsTer7
ENST00000493795.5:c.4202del	ENSP00000418775.1:p.Ser1401ThrfsTer8
ENST00000493919.5:c.893del	ENSP00000418819.1:p.Ser298ThrfsTer8
ENST00000586385.5:c.5-18467del	ENSP00000465818.1:n.5-18467del
ENST00000591534.5:c.-43-7897del	ENSP00000467329.1:n.-43-7897del
ENST00000591849.5:c.-98-32228del	ENSP00000465347.1:n.-98-32228del
ENST00000621897.1:n.237del
NM_007294.3:c.4343del , LRG_292t1:c.4343del	NP_009225.1:p.Ser1448ThrfsTer8
NM_007297.3:c.4202del	NP_009228.2:p.Ser1401ThrfsTer8
NM_007298.3:c.1034del	NP_009229.2:p.Ser345ThrfsTer7
NM_007299.3:c.1034del	NP_009230.2:p.Ser345ThrfsTer7
NM_007300.3:c.4343del	NP_009231.2:p.Ser1448ThrfsTer29
NR_027676.1:n.4479del
NM_007294.4:c.4343del MANE Select	NP_009225.1:p.Ser1448ThrfsTer8
NM_007297.4:c.4202del	NP_009228.2:p.Ser1401ThrfsTer8
NM_007299.4:c.1034del	NP_009230.2:p.Ser345ThrfsTer7
NM_007300.4:c.4343del	NP_009231.2:p.Ser1448ThrfsTer29
NR_027676.2:n.4520del