Canonical Allele Identifier: CA658824719

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548279
• ClinVar RCV Id: RCV000661255
• dbSNP Id: rs1555578376
• MyVariant Identifiers: chr17:g.41215378dup (hg19) ; chr17:g.43063361dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063361dup , CM000679.2:g.43063361dup	GRCh38
NC_000017.10:g.41215378dup , CM000679.1:g.41215378dup	GRCh37
NC_000017.9:g.38468904dup	NCBI36
NG_005905.2:g.154623dup , LRG_292:g.154623dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5162dup	ENSP00000417241.2:p.Ile1722TyrfsTer2
ENST00000470026.6:c.5165dup	ENSP00000419274.2:p.Ile1723TyrfsTer2
ENST00000473961.6:c.5039dup	ENSP00000420201.2:p.Ile1681TyrfsTer2
ENST00000476777.6:c.5159dup	ENSP00000417554.2:p.Ile1721TyrfsTer2
ENST00000477152.6:c.5087dup	ENSP00000419988.2:p.Ile1697TyrfsTer2
ENST00000478531.6:c.1853dup	ENSP00000420412.2:p.Ile619TyrfsTer2
ENST00000489037.2:c.5087dup	ENSP00000420781.2:p.Ile1697TyrfsTer2
ENST00000493919.6:c.1715dup	ENSP00000418819.2:p.Ile573TyrfsTer2
ENST00000494123.6:c.5165dup	ENSP00000419103.2:p.Ile1723TyrfsTer2
ENST00000497488.2:c.4277dup	ENSP00000418986.2:p.Ile1427TyrfsTer2
ENST00000618469.2:c.5165dup	ENSP00000478114.2:p.Ile1723TyrfsTer2
ENST00000634433.2:c.5042dup	ENSP00000489431.2:p.Ile1682TyrfsTer2
ENST00000644379.2:c.5231dup	ENSP00000496570.2:p.Ile1745TyrfsTer2
ENST00000644555.2:c.1715dup	ENSP00000494614.2:p.Ile573TyrfsTer2
ENST00000652672.2:c.5024dup	ENSP00000498906.2:p.Ile1676TyrfsTer2
ENST00000484087.6:c.1727dup	ENSP00000419481.2:p.Ile577TyrfsTer2
ENST00000357654.9:c.5165dup MANE Select	ENSP00000350283.3:p.Ile1723TyrfsTer2
ENST00000471181.7:c.5228dup	ENSP00000418960.2:p.Ile1744TyrfsTer2
ENST00000644379.1:c.1552dup
ENST00000352993.7:c.1739dup	ENSP00000312236.5:p.Ile581TyrfsTer2
ENST00000357654.7:c.5165dup	ENSP00000350283.3:p.Ile1723TyrfsTer2
ENST00000461221.5:c.*4948dup	ENSP00000418548.1:n.*4948dup
ENST00000468300.5:c.1853dup	ENSP00000417148.1:p.Ile619TyrfsTer2
ENST00000471181.6:c.5228dup	ENSP00000418960.2:p.Ile1744TyrfsTer2
ENST00000478531.5:c.1853dup	ENSP00000420412.1:p.Ile619TyrfsTer2
ENST00000484087.5:c.1478dup	ENSP00000419481.1:p.Ile494TyrfsTer2
ENST00000491747.6:c.1853dup	ENSP00000420705.2:p.Ile619TyrfsTer2
ENST00000493795.5:c.5024dup	ENSP00000418775.1:p.Ile1676TyrfsTer2
ENST00000493919.5:c.1715dup	ENSP00000418819.1:p.Ser572=
ENST00000586385.5:c.95dup	ENSP00000465818.1:p.Ile33TyrfsTer2
ENST00000591534.5:c.638dup	ENSP00000467329.1:p.Ile214TyrfsTer2
ENST00000591849.5:c.-98-13171dup	ENSP00000465347.1:n.-98-13171dup
NM_007294.3:c.5165dup , LRG_292t1:c.5165dup	NP_009225.1:p.Ile1723TyrfsTer2
NM_007297.3:c.5024dup	NP_009228.2:p.Ile1676TyrfsTer2
NM_007298.3:c.1853dup	NP_009229.2:p.Ile619TyrfsTer2
NM_007299.3:c.1853dup	NP_009230.2:p.Ile619TyrfsTer2
NM_007300.3:c.5228dup	NP_009231.2:p.Ile1744TyrfsTer2
NR_027676.1:n.5301dup
NM_007294.4:c.5165dup MANE Select	NP_009225.1:p.Ile1723TyrfsTer2
NM_007297.4:c.5024dup	NP_009228.2:p.Ile1676TyrfsTer2
NM_007299.4:c.1853dup	NP_009230.2:p.Ile619TyrfsTer2
NM_007300.4:c.5228dup	NP_009231.2:p.Ile1744TyrfsTer2
NR_027676.2:n.5342dup