Canonical Allele Identifier: CA915950057

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 644050
• ClinVar RCV Id: RCV000797889
• dbSNP Id: rs1597848148

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082498_43082571del , CM000679.2:g.43082498_43082571del	GRCh38
NC_000017.10:g.41234515_41234588del , CM000679.1:g.41234515_41234588del	GRCh37
NC_000017.9:g.38488041_38488114del	NCBI36
NG_005905.2:g.135417_135490del , LRG_292:g.135417_135490del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4194_4267del	ENSP00000417241.2:p.Asp1398GlufsTer5
ENST00000470026.6:c.4194_4267del	ENSP00000419274.2:p.Asp1398GlufsTer5
ENST00000473961.6:c.4068_4141del	ENSP00000420201.2:p.Asp1356GlufsTer5
ENST00000476777.6:c.4188_4261del	ENSP00000417554.2:p.Asp1396GlufsTer5
ENST00000477152.6:c.4116_4189del	ENSP00000419988.2:p.Asp1372GlufsTer5
ENST00000478531.6:c.882_955del	ENSP00000420412.2:p.Asp294GlufsTer5
ENST00000489037.2:c.4116_4189del	ENSP00000420781.2:p.Asp1372GlufsTer5
ENST00000493919.6:c.744_817del	ENSP00000418819.2:p.Asp248GlufsTer5
ENST00000494123.6:c.4194_4267del	ENSP00000419103.2:p.Asp1398GlufsTer5
ENST00000497488.2:c.3306_3379del	ENSP00000418986.2:p.Asp1102GlufsTer5
ENST00000618469.2:c.4194_4267del	ENSP00000478114.2:p.Asp1398GlufsTer5
ENST00000634433.2:c.4071_4144del	ENSP00000489431.2:p.Asp1357GlufsTer5
ENST00000644379.2:c.4194_4267del	ENSP00000496570.2:p.Asp1398GlufsTer5
ENST00000644555.2:c.744_817del	ENSP00000494614.2:p.Asp248GlufsTer5
ENST00000652672.2:c.4053_4126del	ENSP00000498906.2:p.Asp1351GlufsTer5
ENST00000484087.6:c.759_832del	ENSP00000419481.2:p.Asp253GlufsTer5
ENST00000700182.1:c.804_877del	ENSP00000514849.1:p.Asp268GlufsTer5
ENST00000357654.9:c.4194_4267del MANE Select	ENSP00000350283.3:p.Asp1398GlufsTer5
ENST00000471181.7:c.4194_4267del	ENSP00000418960.2:p.Asp1398GlufsTer5
ENST00000644379.1:c.515_588del
ENST00000352993.7:c.768_841del	ENSP00000312236.5:p.Asp256GlufsTer5
ENST00000357654.7:c.4194_4267del	ENSP00000350283.3:p.Asp1398GlufsTer5
ENST00000461221.5:c.*3977_*4050del	ENSP00000418548.1:n.*3977_*4050del
ENST00000461574.1:c.488_561del
ENST00000468300.5:c.885_958del	ENSP00000417148.1:p.Asp295GlufsTer5
ENST00000471181.6:c.4194_4267del	ENSP00000418960.2:p.Asp1398GlufsTer5
ENST00000478531.5:c.882_955del	ENSP00000420412.1:p.Asp294GlufsTer5
ENST00000484087.5:c.507_580del	ENSP00000419481.1:p.Asp169GlufsTer5
ENST00000487825.5:c.510_583del	ENSP00000418212.1:p.Asp170GlufsTer5
ENST00000491747.6:c.885_958del	ENSP00000420705.2:p.Asp295GlufsTer5
ENST00000493795.5:c.4053_4126del	ENSP00000418775.1:p.Asp1351GlufsTer5
ENST00000493919.5:c.744_817del	ENSP00000418819.1:p.Asp248GlufsTer5
ENST00000586385.5:c.5-18616_5-18543del	ENSP00000465818.1:n.5-18616_5-18543del
ENST00000591534.5:c.-43-8046_-43-7973del	ENSP00000467329.1:n.-43-8046_-43-7973del
ENST00000591849.5:c.-98-32377_-98-32304del	ENSP00000465347.1:n.-98-32377_-98-32304de...
ENST00000621897.1:n.88_161del
NM_007294.3:c.4194_4267del , LRG_292t1:c.4194_4267del	NP_009225.1:p.Asp1398GlufsTer5
NM_007297.3:c.4053_4126del	NP_009228.2:p.Asp1351GlufsTer5
NM_007298.3:c.885_958del	NP_009229.2:p.Asp295GlufsTer5
NM_007299.3:c.885_958del	NP_009230.2:p.Asp295GlufsTer5
NM_007300.3:c.4194_4267del	NP_009231.2:p.Asp1398GlufsTer5
NR_027676.1:n.4330_4403del
NM_007294.4:c.4194_4267del MANE Select	NP_009225.1:p.Asp1398GlufsTer5
NM_007297.4:c.4053_4126del	NP_009228.2:p.Asp1351GlufsTer5
NM_007299.4:c.885_958del	NP_009230.2:p.Asp295GlufsTer5
NM_007300.4:c.4194_4267del	NP_009231.2:p.Asp1398GlufsTer5
NR_027676.2:n.4371_4444del