Canonical Allele Identifier: CA645373153

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 431274
• ClinVar RCV Id: RCV000496716
• dbSNP Id: rs1555576968
• MyVariant Identifiers: chr17:g.41209136_41209137insG (hg19) ; chr17:g.43057119_43057120insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057119_43057120insG , CM000679.2:g.43057119_43057120insG	GRCh38
NC_000017.10:g.41209136_41209137insG , CM000679.1:g.41209136_41209137insG	GRCh37
NC_000017.9:g.38462662_38462663insG	NCBI36
NG_005905.2:g.160864_160865insC , LRG_292:g.160864_160865insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5206_5207insC	ENSP00000417241.2:p.Arg1736ThrfsTer?
ENST00000470026.6:c.5209_5210insC	ENSP00000419274.2:p.Arg1737ThrfsTer?
ENST00000473961.6:c.5083_5084insC	ENSP00000420201.2:p.Arg1695ThrfsTer?
ENST00000476777.6:c.5203_5204insC	ENSP00000417554.2:p.Arg1735ThrfsTer?
ENST00000477152.6:c.5131_5132insC	ENSP00000419988.2:p.Arg1711ThrfsTer?
ENST00000478531.6:c.1897_1898insC	ENSP00000420412.2:p.Arg633ThrfsTer?
ENST00000489037.2:c.5131_5132insC	ENSP00000420781.2:p.Arg1711ThrfsTer?
ENST00000493919.6:c.1759_1760insC	ENSP00000418819.2:p.Arg587ThrfsTer?
ENST00000494123.6:c.5209_5210insC	ENSP00000419103.2:p.Arg1737ThrfsTer?
ENST00000497488.2:c.4321_4322insC	ENSP00000418986.2:p.Arg1441ThrfsTer?
ENST00000618469.2:c.5209_5210insC	ENSP00000478114.2:p.Arg1737ThrfsTer?
ENST00000634433.2:c.5086_5087insC	ENSP00000489431.2:p.Arg1696ThrfsTer?
ENST00000644379.2:c.5275_5276insC	ENSP00000496570.2:p.Arg1759ThrfsTer?
ENST00000644555.2:c.1759_1760insC	ENSP00000494614.2:p.Arg587ThrfsTer?
ENST00000652672.2:c.5068_5069insC	ENSP00000498906.2:p.Arg1690ThrfsTer?
ENST00000484087.6:c.1771_1772insC	ENSP00000419481.2:p.Arg591ThrfsTer?
ENST00000357654.9:c.5209_5210insC MANE Select	ENSP00000350283.3:p.Arg1737ThrfsTer?
ENST00000471181.7:c.5272_5273insC	ENSP00000418960.2:p.Arg1758ThrfsTer?
ENST00000644379.1:c.1596_1597insC
ENST00000352993.7:c.1783_1784insC	ENSP00000312236.5:p.Arg595ThrfsTer?
ENST00000357654.7:c.5209_5210insC	ENSP00000350283.3:p.Arg1737ThrfsTer?
ENST00000461221.5:c.*4992_*4993insC	ENSP00000418548.1:n.*4992_*4993insC
ENST00000468300.5:c.1897_1898insC	ENSP00000417148.1:p.Arg633ThrfsTer?
ENST00000471181.6:c.5272_5273insC	ENSP00000418960.2:p.Arg1758ThrfsTer?
ENST00000491747.6:c.1897_1898insC	ENSP00000420705.2:p.Arg633ThrfsTer?
ENST00000493795.5:c.5068_5069insC	ENSP00000418775.1:p.Arg1690ThrfsTer?
ENST00000586385.5:c.139_140insC	ENSP00000465818.1:p.Arg47ThrfsTer?
ENST00000591534.5:c.682_683insC	ENSP00000467329.1:p.Arg228ThrfsTer?
ENST00000591849.5:c.-98-6930_-98-6929insC	ENSP00000465347.1:n.-98-6930_-98-6929insC...
NM_007294.3:c.5209_5210insC , LRG_292t1:c.5209_5210insC	NP_009225.1:p.Arg1737ThrfsTer?
NM_007297.3:c.5068_5069insC	NP_009228.2:p.Arg1690ThrfsTer?
NM_007298.3:c.1897_1898insC	NP_009229.2:p.Arg633ThrfsTer?
NM_007299.3:c.1897_1898insC	NP_009230.2:p.Arg633ThrfsTer?
NM_007300.3:c.5272_5273insC	NP_009231.2:p.Arg1758ThrfsTer?
NR_027676.1:n.5345_5346insC
NM_007294.4:c.5209_5210insC MANE Select	NP_009225.1:p.Arg1737ThrfsTer?
NM_007297.4:c.5068_5069insC	NP_009228.2:p.Arg1690ThrfsTer?
NM_007299.4:c.1897_1898insC	NP_009230.2:p.Arg633ThrfsTer?
NM_007300.4:c.5272_5273insC	NP_009231.2:p.Arg1758ThrfsTer?
NR_027676.2:n.5386_5387insC