Canonical Allele Identifier: CA2809539548

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082482del , CM000679.2:g.43082482del	GRCh38
NC_000017.10:g.41234499del , CM000679.1:g.41234499del	GRCh37
NC_000017.9:g.38488025del	NCBI36
NG_005905.2:g.135503del , LRG_292:g.135503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4280del	ENSP00000417241.2:p.Asn1427ThrfsTer7
ENST00000470026.6:c.4280del	ENSP00000419274.2:p.Asn1427ThrfsTer7
ENST00000473961.6:c.4154del	ENSP00000420201.2:p.Asn1385ThrfsTer7
ENST00000476777.6:c.4274del	ENSP00000417554.2:p.Asn1425ThrfsTer7
ENST00000477152.6:c.4202del	ENSP00000419988.2:p.Asn1401ThrfsTer7
ENST00000478531.6:c.968del	ENSP00000420412.2:p.Asn323ThrfsTer7
ENST00000489037.2:c.4202del	ENSP00000420781.2:p.Asn1401ThrfsTer7
ENST00000493919.6:c.830del	ENSP00000418819.2:p.Asn277ThrfsTer7
ENST00000494123.6:c.4280del	ENSP00000419103.2:p.Asn1427ThrfsTer7
ENST00000497488.2:c.3392del	ENSP00000418986.2:p.Asn1131ThrfsTer7
ENST00000618469.2:c.4280del	ENSP00000478114.2:p.Asn1427ThrfsTer7
ENST00000634433.2:c.4157del	ENSP00000489431.2:p.Asn1386ThrfsTer7
ENST00000644379.2:c.4280del	ENSP00000496570.2:p.Asn1427ThrfsTer7
ENST00000644555.2:c.830del	ENSP00000494614.2:p.Asn277ThrfsTer7
ENST00000652672.2:c.4139del	ENSP00000498906.2:p.Asn1380ThrfsTer7
ENST00000484087.6:c.845del	ENSP00000419481.2:p.Asn282ThrfsTer7
ENST00000700182.1:c.890del	ENSP00000514849.1:p.Asn297ThrfsTer7
ENST00000357654.9:c.4280del MANE Select	ENSP00000350283.3:p.Asn1427ThrfsTer7
ENST00000471181.7:c.4280del	ENSP00000418960.2:p.Asn1427ThrfsTer7
ENST00000644379.1:c.601del
ENST00000352993.7:c.854del	ENSP00000312236.5:p.Asn285ThrfsTer7
ENST00000357654.7:c.4280del	ENSP00000350283.3:p.Asn1427ThrfsTer7
ENST00000461221.5:c.*4063del	ENSP00000418548.1:n.*4063del
ENST00000461574.1:c.574del
ENST00000468300.5:c.971del	ENSP00000417148.1:p.Asn324ThrfsTer7
ENST00000471181.6:c.4280del	ENSP00000418960.2:p.Asn1427ThrfsTer7
ENST00000478531.5:c.968del	ENSP00000420412.1:p.Asn323ThrfsTer7
ENST00000484087.5:c.593del	ENSP00000419481.1:p.Asn198ThrfsTer7
ENST00000487825.5:c.596del	ENSP00000418212.1:p.Asn199ThrfsTer7
ENST00000491747.6:c.971del	ENSP00000420705.2:p.Asn324ThrfsTer7
ENST00000493795.5:c.4139del	ENSP00000418775.1:p.Asn1380ThrfsTer7
ENST00000493919.5:c.830del	ENSP00000418819.1:p.Asn277ThrfsTer7
ENST00000586385.5:c.5-18530del	ENSP00000465818.1:n.5-18530del
ENST00000591534.5:c.-43-7960del	ENSP00000467329.1:n.-43-7960del
ENST00000591849.5:c.-98-32291del	ENSP00000465347.1:n.-98-32291del
ENST00000621897.1:n.174del
NM_007294.3:c.4280del , LRG_292t1:c.4280del	NP_009225.1:p.Asn1427ThrfsTer7
NM_007297.3:c.4139del	NP_009228.2:p.Asn1380ThrfsTer7
NM_007298.3:c.971del	NP_009229.2:p.Asn324ThrfsTer7
NM_007299.3:c.971del	NP_009230.2:p.Asn324ThrfsTer7
NM_007300.3:c.4280del	NP_009231.2:p.Asn1427ThrfsTer7
NR_027676.1:n.4416del
NM_007294.4:c.4280del MANE Select	NP_009225.1:p.Asn1427ThrfsTer7
NM_007297.4:c.4139del	NP_009228.2:p.Asn1380ThrfsTer7
NM_007299.4:c.971del	NP_009230.2:p.Asn324ThrfsTer7
NM_007300.4:c.4280del	NP_009231.2:p.Asn1427ThrfsTer7
NR_027676.2:n.4457del