Canonical Allele Identifier: CA2733641847

Gene: BRCA1

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43051077del , CM000679.2:g.43051077del	GRCh38
NC_000017.10:g.41203094del , CM000679.1:g.41203094del	GRCh37
NC_000017.9:g.38456620del	NCBI36
NG_005905.2:g.166908del , LRG_292:g.166908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5316del	ENSP00000417241.2:p.Asn1773ThrfsTer19
ENST00000470026.6:c.5319del	ENSP00000419274.2:p.Asn1774ThrfsTer19
ENST00000473961.6:c.5193del	ENSP00000420201.2:p.Asn1732ThrfsTer19
ENST00000476777.6:c.5313del	ENSP00000417554.2:p.Asn1772ThrfsTer19
ENST00000477152.6:c.5241del	ENSP00000419988.2:p.Asn1748ThrfsTer19
ENST00000478531.6:c.2007del	ENSP00000420412.2:p.Asn670ThrfsTer19
ENST00000489037.2:c.5241del	ENSP00000420781.2:p.Asn1748ThrfsTer19
ENST00000493919.6:c.1869del	ENSP00000418819.2:p.Asn624ThrfsTer19
ENST00000494123.6:c.5319del	ENSP00000419103.2:p.Asn1774ThrfsTer19
ENST00000497488.2:c.4431del	ENSP00000418986.2:p.Asn1478ThrfsTer19
ENST00000618469.2:c.5319del	ENSP00000478114.2:p.Asn1774ThrfsTer19
ENST00000634433.2:c.5196del	ENSP00000489431.2:p.Asn1733ThrfsTer19
ENST00000644379.2:c.5385del	ENSP00000496570.2:p.Asn1796ThrfsTer19
ENST00000644555.2:c.1869del	ENSP00000494614.2:p.Asn624ThrfsTer19
ENST00000652672.2:c.5178del	ENSP00000498906.2:p.Asn1727ThrfsTer19
ENST00000484087.6:c.1881del	ENSP00000419481.2:p.Asn628ThrfsTer19
ENST00000357654.9:c.5319del MANE Select	ENSP00000350283.3:p.Asn1774ThrfsTer19
ENST00000471181.7:c.5382del	ENSP00000418960.2:p.Asn1795ThrfsTer19
ENST00000644379.1:c.1706del
ENST00000352993.7:c.1893del	ENSP00000312236.5:p.Asn632ThrfsTer19
ENST00000357654.7:c.5319del	ENSP00000350283.3:p.Asn1774ThrfsTer19
ENST00000461221.5:c.*5102del	ENSP00000418548.1:n.*5102del
ENST00000468300.5:c.2007del	ENSP00000417148.1:p.Asn670ThrfsTer?
ENST00000471181.6:c.5382del	ENSP00000418960.2:p.Asn1795ThrfsTer19
ENST00000491747.6:c.2007del	ENSP00000420705.2:p.Asn670ThrfsTer19
ENST00000493795.5:c.5178del	ENSP00000418775.1:p.Asn1727ThrfsTer19
ENST00000586385.5:c.249del	ENSP00000465818.1:p.Asn84ThrfsTer19
ENST00000591534.5:c.792del	ENSP00000467329.1:p.Asn265ThrfsTer19
ENST00000591849.5:c.-98-886del	ENSP00000465347.1:n.-98-886del
NM_007294.3:c.5319del , LRG_292t1:c.5319del	NP_009225.1:p.Asn1774ThrfsTer19
NM_007297.3:c.5178del	NP_009228.2:p.Asn1727ThrfsTer19
NM_007298.3:c.2007del	NP_009229.2:p.Asn670ThrfsTer19
NM_007299.3:c.2007del	NP_009230.2:p.Asn670ThrfsTer?
NM_007300.3:c.5382del	NP_009231.2:p.Asn1795ThrfsTer19
NR_027676.1:n.5455del
NM_007294.4:c.5319del MANE Select	NP_009225.1:p.Asn1774ThrfsTer19
NM_007297.4:c.5178del	NP_009228.2:p.Asn1727ThrfsTer19
NM_007299.4:c.2007del	NP_009230.2:p.Asn670ThrfsTer?
NM_007300.4:c.5382del	NP_009231.2:p.Asn1795ThrfsTer19
NR_027676.2:n.5496del