Canonical Allele Identifier: CA10589643

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266496
• ClinVar RCV Id: RCV003644962
• dbSNP Id: rs886040249
• MyVariant Identifiers: chr17:g.41223097del (hg19) ; chr17:g.43071080del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071082del , CM000679.2:g.43071082del	GRCh38
NC_000017.10:g.41223099del , CM000679.1:g.41223099del	GRCh37
NC_000017.9:g.38476625del	NCBI36
NG_005905.2:g.146904del , LRG_292:g.146904del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4831del	ENSP00000417241.2:p.Gln1611ArgfsTer21
ENST00000470026.6:c.4834del	ENSP00000419274.2:p.Gln1612ArgfsTer21
ENST00000473961.6:c.4708del	ENSP00000420201.2:p.Gln1570ArgfsTer21
ENST00000476777.6:c.4828del	ENSP00000417554.2:p.Gln1610ArgfsTer21
ENST00000477152.6:c.4756del	ENSP00000419988.2:p.Gln1586ArgfsTer21
ENST00000478531.6:c.1522del	ENSP00000420412.2:p.Gln508ArgfsTer21
ENST00000489037.2:c.4756del	ENSP00000420781.2:p.Gln1586ArgfsTer21
ENST00000493919.6:c.1384del	ENSP00000418819.2:p.Gln462ArgfsTer21
ENST00000494123.6:c.4834del	ENSP00000419103.2:p.Gln1612ArgfsTer21
ENST00000497488.2:c.3946del	ENSP00000418986.2:p.Gln1316ArgfsTer21
ENST00000618469.2:c.4834del	ENSP00000478114.2:p.Gln1612ArgfsTer21
ENST00000634433.2:c.4711del	ENSP00000489431.2:p.Gln1571ArgfsTer21
ENST00000644379.2:c.4900del	ENSP00000496570.2:p.Gln1634ArgfsTer21
ENST00000644555.2:c.1384del	ENSP00000494614.2:p.Gln462ArgfsTer21
ENST00000652672.2:c.4693del	ENSP00000498906.2:p.Gln1565ArgfsTer21
ENST00000484087.6:c.1396del	ENSP00000419481.2:p.Gln466ArgfsTer21
ENST00000700182.1:c.1441del	ENSP00000514849.1:p.Gln481ArgfsTer21
ENST00000357654.9:c.4834del MANE Select	ENSP00000350283.3:p.Gln1612ArgfsTer21
ENST00000471181.7:c.4897del	ENSP00000418960.2:p.Gln1633ArgfsTer21
ENST00000644379.1:c.1221del
ENST00000352993.7:c.1408del	ENSP00000312236.5:p.Gln470ArgfsTer21
ENST00000357654.7:c.4834del	ENSP00000350283.3:p.Gln1612ArgfsTer21
ENST00000461221.5:c.*4617del	ENSP00000418548.1:n.*4617del
ENST00000468300.5:c.1522del	ENSP00000417148.1:p.Gln508ArgfsTer21
ENST00000471181.6:c.4897del	ENSP00000418960.2:p.Gln1633ArgfsTer21
ENST00000478531.5:c.1522del	ENSP00000420412.1:p.Gln508ArgfsTer21
ENST00000484087.5:c.1147del	ENSP00000419481.1:p.Gln383ArgfsTer21
ENST00000491747.6:c.1522del	ENSP00000420705.2:p.Gln508ArgfsTer21
ENST00000493795.5:c.4693del	ENSP00000418775.1:p.Gln1565ArgfsTer21
ENST00000493919.5:c.1384del	ENSP00000418819.1:p.Gln462ArgfsTer21
ENST00000586385.5:c.5-7129del	ENSP00000465818.1:n.5-7129del
ENST00000591534.5:c.307del	ENSP00000467329.1:p.Gln103ArgfsTer21
ENST00000591849.5:c.-98-20890del	ENSP00000465347.1:n.-98-20890del
NM_007294.3:c.4834del , LRG_292t1:c.4834del	NP_009225.1:p.Gln1612ArgfsTer21
NM_007297.3:c.4693del	NP_009228.2:p.Gln1565ArgfsTer21
NM_007298.3:c.1522del	NP_009229.2:p.Gln508ArgfsTer21
NM_007299.3:c.1522del	NP_009230.2:p.Gln508ArgfsTer21
NM_007300.3:c.4897del	NP_009231.2:p.Gln1633ArgfsTer21
NR_027676.1:n.4970del
NM_007294.4:c.4834del MANE Select	NP_009225.1:p.Gln1612ArgfsTer21
NM_007297.4:c.4693del	NP_009228.2:p.Gln1565ArgfsTer21
NM_007299.4:c.1522del	NP_009230.2:p.Gln508ArgfsTer21
NM_007300.4:c.4897del	NP_009231.2:p.Gln1633ArgfsTer21
NR_027676.2:n.5011del