Canonical Allele Identifier: CA328026

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55618
• ClinVar RCV Id: RCV002345358
• dbSNP Id: rs397509294
• MyVariant Identifiers: chr17:g.41197754dupA (hg19) ; chr17:g.41197753_41197754insA (hg19) ; chr17:g.43045737dupA (hg38) ; chr17:g.43045736_43045737insA (hg38)
• PubMed: PMID:19016756

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045737dup , CM000679.2:g.43045737dup	GRCh38
NC_000017.10:g.41197754dup , CM000679.1:g.41197754dup	GRCh37
NC_000017.9:g.38451280dup	NCBI36
NG_005905.2:g.172247dup , LRG_292:g.172247dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5530dup	ENSP00000417241.2:p.Tyr1844LeufsTer?
ENST00000470026.6:c.5533dup	ENSP00000419274.2:p.Tyr1845LeufsTer?
ENST00000473961.6:c.5407dup	ENSP00000420201.2:p.Tyr1803LeufsTer?
ENST00000476777.6:c.5527dup	ENSP00000417554.2:p.Tyr1843LeufsTer?
ENST00000477152.6:c.5455dup	ENSP00000419988.2:p.Tyr1819LeufsTer?
ENST00000478531.6:c.2221dup	ENSP00000420412.2:p.Tyr741LeufsTer?
ENST00000489037.2:c.5455dup	ENSP00000420781.2:p.Tyr1819LeufsTer?
ENST00000493919.6:c.2083dup	ENSP00000418819.2:p.Tyr695LeufsTer?
ENST00000494123.6:c.5533dup	ENSP00000419103.2:p.Tyr1845LeufsTer?
ENST00000497488.2:c.4645dup	ENSP00000418986.2:p.Tyr1549LeufsTer?
ENST00000618469.2:c.5533dup	ENSP00000478114.2:p.Tyr1845LeufsTer?
ENST00000634433.2:c.5410dup	ENSP00000489431.2:p.Tyr1804LeufsTer?
ENST00000644379.2:c.5599dup	ENSP00000496570.2:p.Tyr1867LeufsTer?
ENST00000644555.2:c.2083dup	ENSP00000494614.2:p.Tyr695LeufsTer?
ENST00000652672.2:c.5392dup	ENSP00000498906.2:p.Tyr1798LeufsTer?
ENST00000484087.6:c.2095dup	ENSP00000419481.2:p.Tyr699LeufsTer?
ENST00000700081.1:n.1416dup
ENST00000700082.1:n.897dup
ENST00000357654.9:c.5533dup MANE Select	ENSP00000350283.3:p.Tyr1845LeufsTer?
ENST00000471181.7:c.5596dup	ENSP00000418960.2:p.Tyr1866LeufsTer?
ENST00000644379.1:c.1920dup
ENST00000352993.7:c.2107dup	ENSP00000312236.5:p.Tyr703LeufsTer?
ENST00000357654.7:c.5533dup	ENSP00000350283.3:p.Tyr1845LeufsTer?
ENST00000461221.5:c.*5316dup	ENSP00000418548.1:n.*5316dup
ENST00000468300.5:c.*47dup	ENSP00000417148.1:n.*47dup
ENST00000471181.6:c.5596dup	ENSP00000418960.2:p.Tyr1866LeufsTer?
ENST00000491747.6:c.2221dup	ENSP00000420705.2:p.Tyr741LeufsTer?
ENST00000493795.5:c.5392dup	ENSP00000418775.1:p.Tyr1798LeufsTer?
ENST00000586385.5:c.463dup	ENSP00000465818.1:p.Tyr155LeufsTer?
ENST00000591534.5:c.1006dup	ENSP00000467329.1:p.Tyr336LeufsTer?
ENST00000591849.5:c.232dup	ENSP00000465347.1:p.Tyr78LeufsTer?
NM_007294.3:c.5533dup , LRG_292t1:c.5533dup	NP_009225.1:p.Tyr1845LeufsTer?
NM_007297.3:c.5392dup	NP_009228.2:p.Tyr1798LeufsTer?
NM_007298.3:c.2221dup	NP_009229.2:p.Tyr741LeufsTer?
NM_007299.3:c.*47dup	NP_009230.2:n.*47dup
NM_007300.3:c.5596dup	NP_009231.2:p.Tyr1866LeufsTer?
NR_027676.1:n.5669dup
NM_007294.4:c.5533dup MANE Select	NP_009225.1:p.Tyr1845LeufsTer?
NM_007297.4:c.5392dup	NP_009228.2:p.Tyr1798LeufsTer?
NM_007299.4:c.*47dup	NP_009230.2:n.*47dup
NM_007300.4:c.5596dup	NP_009231.2:p.Tyr1866LeufsTer?
NR_027676.2:n.5710dup