Canonical Allele Identifier: CA002421

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 125649
• ClinVar RCV Id: RCV000112177
• dbSNP Id: rs80357704
• MyVariant Identifiers: chr17:g.41243782dupT (hg19) ; chr17:g.41243781_41243782insT (hg19) ; chr17:g.43091765dupT (hg38) ; chr17:g.43091764_43091765insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091765dup , CM000679.2:g.43091765dup	GRCh38
NC_000017.10:g.41243782dup , CM000679.1:g.41243782dup	GRCh37
NC_000017.9:g.38497308dup	NCBI36
NG_005905.2:g.126219dup , LRG_292:g.126219dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3830dup
ENST00000461574.2:c.3766dup	ENSP00000417241.2:p.Thr1256AsnfsTer11
ENST00000470026.6:c.3766dup	ENSP00000419274.2:p.Thr1256AsnfsTer11
ENST00000473961.6:c.3640dup	ENSP00000420201.2:p.Thr1214AsnfsTer11
ENST00000476777.6:c.3763dup	ENSP00000417554.2:p.Thr1255AsnfsTer11
ENST00000477152.6:c.3688dup	ENSP00000419988.2:p.Thr1230AsnfsTer11
ENST00000478531.6:c.785-733dup	ENSP00000420412.2:n.785-733dup
ENST00000489037.2:c.3688dup	ENSP00000420781.2:p.Thr1230AsnfsTer11
ENST00000493919.6:c.647-733dup	ENSP00000418819.2:n.647-733dup
ENST00000494123.6:c.3766dup	ENSP00000419103.2:p.Thr1256AsnfsTer11
ENST00000497488.2:c.2878dup	ENSP00000418986.2:p.Thr960AsnfsTer11
ENST00000618469.2:c.3766dup	ENSP00000478114.2:p.Thr1256AsnfsTer11
ENST00000634433.2:c.3643dup	ENSP00000489431.2:p.Thr1215AsnfsTer11
ENST00000644379.2:c.3766dup	ENSP00000496570.2:p.Thr1256AsnfsTer11
ENST00000644555.2:c.647-733dup	ENSP00000494614.2:n.647-733dup
ENST00000652672.2:c.3625dup	ENSP00000498906.2:p.Thr1209AsnfsTer11
ENST00000484087.6:c.665-733dup	ENSP00000419481.2:n.665-733dup
ENST00000700182.1:c.707-733dup	ENSP00000514849.1:n.707-733dup
ENST00000357654.9:c.3766dup MANE Select	ENSP00000350283.3:p.Thr1256AsnfsTer11
ENST00000471181.7:c.3766dup	ENSP00000418960.2:p.Thr1256AsnfsTer11
ENST00000644379.1:c.87dup
ENST00000352993.7:c.671-733dup	ENSP00000312236.5:n.671-733dup
ENST00000354071.7:c.3766dup	ENSP00000326002.7:p.Thr1256AsnfsTer11
ENST00000357654.7:c.3766dup	ENSP00000350283.3:p.Thr1256AsnfsTer11
ENST00000461221.5:c.*3549dup	ENSP00000418548.1:n.*3549dup
ENST00000461574.1:c.60dup
ENST00000468300.5:c.788-733dup	ENSP00000417148.1:n.788-733dup
ENST00000471181.6:c.3766dup	ENSP00000418960.2:p.Thr1256AsnfsTer11
ENST00000478531.5:c.785-733dup	ENSP00000420412.1:n.785-733dup
ENST00000484087.5:c.410-733dup	ENSP00000419481.1:n.410-733dup
ENST00000487825.5:c.413-733dup	ENSP00000418212.1:n.413-733dup
ENST00000491747.6:c.788-733dup	ENSP00000420705.2:n.788-733dup
ENST00000493795.5:c.3625dup	ENSP00000418775.1:p.Thr1209AsnfsTer11
ENST00000493919.5:c.647-733dup	ENSP00000418819.1:n.647-733dup
ENST00000586385.5:c.5-27814dup	ENSP00000465818.1:n.5-27814dup
ENST00000591534.5:c.-43-17244dup	ENSP00000467329.1:n.-43-17244dup
ENST00000591849.5:c.-99+33506dup	ENSP00000465347.1:n.-99+33506dup
NM_007294.3:c.3766dup , LRG_292t1:c.3766dup	NP_009225.1:p.Thr1256AsnfsTer11
NM_007297.3:c.3625dup	NP_009228.2:p.Thr1209AsnfsTer11
NM_007298.3:c.788-733dup	NP_009229.2:n.788-733dup
NM_007299.3:c.788-733dup	NP_009230.2:n.788-733dup
NM_007300.3:c.3766dup	NP_009231.2:p.Thr1256AsnfsTer11
NR_027676.1:n.3902dup
NM_007294.4:c.3766dup MANE Select	NP_009225.1:p.Thr1256AsnfsTer11
NM_007297.4:c.3625dup	NP_009228.2:p.Thr1209AsnfsTer11
NM_007299.4:c.788-733dup	NP_009230.2:n.788-733dup
NM_007300.4:c.3766dup	NP_009231.2:p.Thr1256AsnfsTer11
NR_027676.2:n.3943dup