Canonical Allele Identifier: CA2499224457

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1733428
• ClinVar RCV Id: RCV002452374

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091899del , CM000679.2:g.43091899del	GRCh38
NC_000017.10:g.41243916del , CM000679.1:g.41243916del	GRCh37
NC_000017.9:g.38497442del	NCBI36
NG_005905.2:g.126086del , LRG_292:g.126086del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3697del
ENST00000461574.2:c.3633del	ENSP00000417241.2:p.Ser1212GlnfsTer23
ENST00000470026.6:c.3633del	ENSP00000419274.2:p.Ser1212GlnfsTer23
ENST00000473961.6:c.3507del	ENSP00000420201.2:p.Ser1170GlnfsTer23
ENST00000476777.6:c.3630del	ENSP00000417554.2:p.Ser1211GlnfsTer23
ENST00000477152.6:c.3555del	ENSP00000419988.2:p.Ser1186GlnfsTer23
ENST00000478531.6:c.785-866del	ENSP00000420412.2:n.785-866del
ENST00000489037.2:c.3555del	ENSP00000420781.2:p.Ser1186GlnfsTer23
ENST00000493919.6:c.647-866del	ENSP00000418819.2:n.647-866del
ENST00000494123.6:c.3633del	ENSP00000419103.2:p.Ser1212GlnfsTer23
ENST00000497488.2:c.2745del	ENSP00000418986.2:p.Ser916GlnfsTer23
ENST00000618469.2:c.3633del	ENSP00000478114.2:p.Ser1212GlnfsTer23
ENST00000634433.2:c.3510del	ENSP00000489431.2:p.Ser1171GlnfsTer23
ENST00000644379.2:c.3633del	ENSP00000496570.2:p.Ser1212GlnfsTer23
ENST00000644555.2:c.647-866del	ENSP00000494614.2:n.647-866del
ENST00000652672.2:c.3492del	ENSP00000498906.2:p.Ser1165GlnfsTer23
ENST00000484087.6:c.665-866del	ENSP00000419481.2:n.665-866del
ENST00000700182.1:c.707-866del	ENSP00000514849.1:n.707-866del
ENST00000357654.9:c.3633del MANE Select	ENSP00000350283.3:p.Ser1212GlnfsTer23
ENST00000471181.7:c.3633del	ENSP00000418960.2:p.Ser1212GlnfsTer23
ENST00000352993.7:c.671-866del	ENSP00000312236.5:n.671-866del
ENST00000354071.7:c.3633del	ENSP00000326002.7:p.Ser1212GlnfsTer23
ENST00000357654.7:c.3633del	ENSP00000350283.3:p.Ser1212GlnfsTer23
ENST00000461221.5:c.*3416del	ENSP00000418548.1:n.*3416del
ENST00000468300.5:c.788-866del	ENSP00000417148.1:n.788-866del
ENST00000471181.6:c.3633del	ENSP00000418960.2:p.Ser1212GlnfsTer23
ENST00000478531.5:c.785-866del	ENSP00000420412.1:n.785-866del
ENST00000484087.5:c.410-866del	ENSP00000419481.1:n.410-866del
ENST00000487825.5:c.413-866del	ENSP00000418212.1:n.413-866del
ENST00000491747.6:c.788-866del	ENSP00000420705.2:n.788-866del
ENST00000493795.5:c.3492del	ENSP00000418775.1:p.Ser1165GlnfsTer23
ENST00000493919.5:c.647-866del	ENSP00000418819.1:n.647-866del
ENST00000586385.5:c.5-27947del	ENSP00000465818.1:n.5-27947del
ENST00000591534.5:c.-43-17377del	ENSP00000467329.1:n.-43-17377del
ENST00000591849.5:c.-99+33373del	ENSP00000465347.1:n.-99+33373del
NM_007294.3:c.3633del , LRG_292t1:c.3633del	NP_009225.1:p.Ser1212GlnfsTer23
NM_007297.3:c.3492del	NP_009228.2:p.Ser1165GlnfsTer23
NM_007298.3:c.788-866del	NP_009229.2:n.788-866del
NM_007299.3:c.788-866del	NP_009230.2:n.788-866del
NM_007300.3:c.3633del	NP_009231.2:p.Ser1212GlnfsTer23
NR_027676.1:n.3769del
NM_007294.4:c.3633del MANE Select	NP_009225.1:p.Ser1212GlnfsTer23
NM_007297.4:c.3492del	NP_009228.2:p.Ser1165GlnfsTer23
NM_007299.4:c.788-866del	NP_009230.2:n.788-866del
NM_007300.4:c.3633del	NP_009231.2:p.Ser1212GlnfsTer23
NR_027676.2:n.3810del