Canonical Allele Identifier: CA003359

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55459
• ClinVar RCV Id: RCV000112565
• dbSNP Id: rs273901753
• MyVariant Identifiers: chr17:g.41209098_41209137delinsGA (hg19) ; chr17:g.43057081_43057120delinsGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43057081_43057120delinsGA , CM000679.2:g.43057081_43057120delinsGA	GRCh38
NC_000017.10:g.41209098_41209137delinsGA , CM000679.1:g.41209098_41209137delinsGA	GRCh37
NC_000017.9:g.38462624_38462663delinsGA	NCBI36
NG_005905.2:g.160864_160903delinsTC , LRG_292:g.160864_160903delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5206_5245delinsTC	ENSP00000417241.2:p.Arg1736SerfsTer?
ENST00000470026.6:c.5209_5248delinsTC	ENSP00000419274.2:p.Arg1737SerfsTer?
ENST00000473961.6:c.5083_5122delinsTC	ENSP00000420201.2:p.Arg1695SerfsTer?
ENST00000476777.6:c.5203_5242delinsTC	ENSP00000417554.2:p.Arg1735SerfsTer?
ENST00000477152.6:c.5131_5170delinsTC	ENSP00000419988.2:p.Arg1711SerfsTer?
ENST00000478531.6:c.1897_1936delinsTC	ENSP00000420412.2:p.Arg633SerfsTer?
ENST00000489037.2:c.5131_5170delinsTC	ENSP00000420781.2:p.Arg1711SerfsTer?
ENST00000493919.6:c.1759_1798delinsTC	ENSP00000418819.2:p.Arg587SerfsTer?
ENST00000494123.6:c.5209_5248delinsTC	ENSP00000419103.2:p.Arg1737SerfsTer?
ENST00000497488.2:c.4321_4360delinsTC	ENSP00000418986.2:p.Arg1441SerfsTer?
ENST00000618469.2:c.5209_5248delinsTC	ENSP00000478114.2:p.Arg1737SerfsTer?
ENST00000634433.2:c.5086_5125delinsTC	ENSP00000489431.2:p.Arg1696SerfsTer?
ENST00000644379.2:c.5275_5314delinsTC	ENSP00000496570.2:p.Arg1759SerfsTer?
ENST00000644555.2:c.1759_1798delinsTC	ENSP00000494614.2:p.Arg587SerfsTer?
ENST00000652672.2:c.5068_5107delinsTC	ENSP00000498906.2:p.Arg1690SerfsTer?
ENST00000484087.6:c.1771_1810delinsTC	ENSP00000419481.2:p.Arg591SerfsTer?
ENST00000357654.9:c.5209_5248delinsTC MANE Select	ENSP00000350283.3:p.Arg1737SerfsTer?
ENST00000471181.7:c.5272_5311delinsTC	ENSP00000418960.2:p.Arg1758SerfsTer?
ENST00000644379.1:c.1596_1635delinsTC
ENST00000352993.7:c.1783_1822delinsTC	ENSP00000312236.5:p.Arg595SerfsTer?
ENST00000357654.7:c.5209_5248delinsTC	ENSP00000350283.3:p.Arg1737SerfsTer?
ENST00000461221.5:c.*4992_*5031delinsTC	ENSP00000418548.1:n.*4992_*5031delinsTC
ENST00000468300.5:c.1897_1936delinsTC	ENSP00000417148.1:p.Arg633SerfsTer?
ENST00000471181.6:c.5272_5311delinsTC	ENSP00000418960.2:p.Arg1758SerfsTer?
ENST00000491747.6:c.1897_1936delinsTC	ENSP00000420705.2:p.Arg633SerfsTer?
ENST00000493795.5:c.5068_5107delinsTC	ENSP00000418775.1:p.Arg1690SerfsTer?
ENST00000586385.5:c.139_178delinsTC	ENSP00000465818.1:p.Arg47SerfsTer?
ENST00000591534.5:c.682_721delinsTC	ENSP00000467329.1:p.Arg228SerfsTer?
ENST00000591849.5:c.-98-6930_-98-6891delinsTC	ENSP00000465347.1:n.-98-6930_-98-6891deli...
NM_007294.3:c.5209_5248delinsTC , LRG_292t1:c.5209_5248delinsTC	NP_009225.1:p.Arg1737SerfsTer?
NM_007297.3:c.5068_5107delinsTC	NP_009228.2:p.Arg1690SerfsTer?
NM_007298.3:c.1897_1936delinsTC	NP_009229.2:p.Arg633SerfsTer?
NM_007299.3:c.1897_1936delinsTC	NP_009230.2:p.Arg633SerfsTer?
NM_007300.3:c.5272_5311delinsTC	NP_009231.2:p.Arg1758SerfsTer?
NR_027676.1:n.5345_5384delinsTC
NM_007294.4:c.5209_5248delinsTC MANE Select	NP_009225.1:p.Arg1737SerfsTer?
NM_007297.4:c.5068_5107delinsTC	NP_009228.2:p.Arg1690SerfsTer?
NM_007299.4:c.1897_1936delinsTC	NP_009230.2:p.Arg633SerfsTer?
NM_007300.4:c.5272_5311delinsTC	NP_009231.2:p.Arg1758SerfsTer?
NR_027676.2:n.5386_5425delinsTC