Canonical Allele Identifier: CA054811

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 254469
• ClinVar RCV Id: RCV000241197
• dbSNP Id: rs774988515
• ExAC: 17:41201152 AT / A
• gnomAD v2: 17-41201152-AT-A
• gnomAD v4: 17-43049135-AT-A
• MyVariant Identifiers: chr17:g.41201153del (hg19) ; chr17:g.43049136del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049136del , CM000679.2:g.43049136del	GRCh38
NC_000017.10:g.41201153del , CM000679.1:g.41201153del	GRCh37
NC_000017.9:g.38454679del	NCBI36
NG_005905.2:g.168848del , LRG_292:g.168848del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5388del	ENSP00000417241.2:p.Phe1797SerfsTer?
ENST00000470026.6:c.5391del	ENSP00000419274.2:p.Phe1798SerfsTer?
ENST00000473961.6:c.5265del	ENSP00000420201.2:p.Phe1756SerfsTer?
ENST00000476777.6:c.5385del	ENSP00000417554.2:p.Phe1796SerfsTer?
ENST00000477152.6:c.5313del	ENSP00000419988.2:p.Phe1772SerfsTer?
ENST00000478531.6:c.2079del	ENSP00000420412.2:p.Phe694SerfsTer?
ENST00000489037.2:c.5313del	ENSP00000420781.2:p.Phe1772SerfsTer?
ENST00000493919.6:c.1941del	ENSP00000418819.2:p.Phe648SerfsTer?
ENST00000494123.6:c.5391del	ENSP00000419103.2:p.Phe1798SerfsTer?
ENST00000497488.2:c.4503del	ENSP00000418986.2:p.Phe1502SerfsTer?
ENST00000618469.2:c.5391del	ENSP00000478114.2:p.Phe1798SerfsTer?
ENST00000634433.2:c.5268del	ENSP00000489431.2:p.Phe1757SerfsTer?
ENST00000644379.2:c.5457del	ENSP00000496570.2:p.Phe1820SerfsTer?
ENST00000644555.2:c.1941del	ENSP00000494614.2:p.Phe648SerfsTer?
ENST00000652672.2:c.5250del	ENSP00000498906.2:p.Phe1751SerfsTer?
ENST00000484087.6:c.1953del	ENSP00000419481.2:p.Phe652SerfsTer?
ENST00000700081.1:n.1274del
ENST00000357654.9:c.5391del MANE Select	ENSP00000350283.3:p.Phe1798SerfsTer?
ENST00000471181.7:c.5454del	ENSP00000418960.2:p.Phe1819SerfsTer?
ENST00000644379.1:c.1778del
ENST00000352993.7:c.1965del	ENSP00000312236.5:p.Phe656SerfsTer?
ENST00000357654.7:c.5391del	ENSP00000350283.3:p.Phe1798SerfsTer?
ENST00000461221.5:c.*5174del	ENSP00000418548.1:n.*5174del
ENST00000468300.5:c.2021-1433del	ENSP00000417148.1:n.2021-1433del
ENST00000471181.6:c.5454del	ENSP00000418960.2:p.Phe1819SerfsTer?
ENST00000491747.6:c.2079del	ENSP00000420705.2:p.Phe694SerfsTer?
ENST00000493795.5:c.5250del	ENSP00000418775.1:p.Phe1751SerfsTer?
ENST00000586385.5:c.321del	ENSP00000465818.1:p.Phe108SerfsTer?
ENST00000591534.5:c.864del	ENSP00000467329.1:p.Phe289SerfsTer?
ENST00000591849.5:c.90del	ENSP00000465347.1:p.Phe31SerfsTer?
NM_007294.3:c.5391del , LRG_292t1:c.5391del	NP_009225.1:p.Phe1798SerfsTer?
NM_007297.3:c.5250del	NP_009228.2:p.Phe1751SerfsTer?
NM_007298.3:c.2079del	NP_009229.2:p.Phe694SerfsTer?
NM_007299.3:c.2021-1433del	NP_009230.2:n.2021-1433del
NM_007300.3:c.5454del	NP_009231.2:p.Phe1819SerfsTer?
NR_027676.1:n.5527del
NM_007294.4:c.5391del MANE Select	NP_009225.1:p.Phe1798SerfsTer?
NM_007297.4:c.5250del	NP_009228.2:p.Phe1751SerfsTer?
NM_007299.4:c.2021-1433del	NP_009230.2:n.2021-1433del
NM_007300.4:c.5454del	NP_009231.2:p.Phe1819SerfsTer?
NR_027676.2:n.5568del