Canonical Allele Identifier: CA645373157

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 431273
• ClinVar RCV Id: RCV000496555
• dbSNP Id: rs1135401883
• MyVariant Identifiers: chr17:g.41215895_41215896insG (hg19) ; chr17:g.43063878_43063879insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063878_43063879insG , CM000679.2:g.43063878_43063879insG	GRCh38
NC_000017.10:g.41215895_41215896insG , CM000679.1:g.41215895_41215896insG	GRCh37
NC_000017.9:g.38469421_38469422insG	NCBI36
NG_005905.2:g.154105_154106insC , LRG_292:g.154105_154106insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5144_5145insC	ENSP00000417241.2:p.Trp1717LeufsTer7
ENST00000470026.6:c.5147_5148insC	ENSP00000419274.2:p.Trp1718LeufsTer7
ENST00000473961.6:c.5021_5022insC	ENSP00000420201.2:p.Trp1676LeufsTer7
ENST00000476777.6:c.5141_5142insC	ENSP00000417554.2:p.Trp1716LeufsTer7
ENST00000477152.6:c.5069_5070insC	ENSP00000419988.2:p.Trp1692LeufsTer7
ENST00000478531.6:c.1835_1836insC	ENSP00000420412.2:p.Trp614LeufsTer7
ENST00000489037.2:c.5069_5070insC	ENSP00000420781.2:p.Trp1692LeufsTer7
ENST00000493919.6:c.1697_1698insC	ENSP00000418819.2:p.Trp568LeufsTer7
ENST00000494123.6:c.5147_5148insC	ENSP00000419103.2:p.Trp1718LeufsTer7
ENST00000497488.2:c.4259_4260insC	ENSP00000418986.2:p.Trp1422LeufsTer7
ENST00000618469.2:c.5147_5148insC	ENSP00000478114.2:p.Trp1718LeufsTer7
ENST00000634433.2:c.5024_5025insC	ENSP00000489431.2:p.Trp1677LeufsTer7
ENST00000644379.2:c.5213_5214insC	ENSP00000496570.2:p.Trp1740LeufsTer7
ENST00000644555.2:c.1697_1698insC	ENSP00000494614.2:p.Trp568LeufsTer7
ENST00000652672.2:c.5006_5007insC	ENSP00000498906.2:p.Trp1671LeufsTer7
ENST00000484087.6:c.1709_1710insC	ENSP00000419481.2:p.Trp572LeufsTer7
ENST00000357654.9:c.5147_5148insC MANE Select	ENSP00000350283.3:p.Trp1718LeufsTer7
ENST00000471181.7:c.5210_5211insC	ENSP00000418960.2:p.Trp1739LeufsTer7
ENST00000644379.1:c.1534_1535insC
ENST00000352993.7:c.1721_1722insC	ENSP00000312236.5:p.Trp576LeufsTer7
ENST00000357654.7:c.5147_5148insC	ENSP00000350283.3:p.Trp1718LeufsTer7
ENST00000461221.5:c.*4930_*4931insC	ENSP00000418548.1:n.*4930_*4931insC
ENST00000468300.5:c.1835_1836insC	ENSP00000417148.1:p.Trp614LeufsTer7
ENST00000471181.6:c.5210_5211insC	ENSP00000418960.2:p.Trp1739LeufsTer7
ENST00000478531.5:c.1835_1836insC	ENSP00000420412.1:p.Trp614LeufsTer7
ENST00000484087.5:c.1460_1461insC	ENSP00000419481.1:p.Trp489LeufsTer7
ENST00000491747.6:c.1835_1836insC	ENSP00000420705.2:p.Trp614LeufsTer7
ENST00000493795.5:c.5006_5007insC	ENSP00000418775.1:p.Trp1671LeufsTer7
ENST00000493919.5:c.1697_1698insC	ENSP00000418819.1:p.Trp568LeufsTer?
ENST00000586385.5:c.77_78insC	ENSP00000465818.1:p.Trp28LeufsTer7
ENST00000591534.5:c.620_621insC	ENSP00000467329.1:p.Trp209LeufsTer7
ENST00000591849.5:c.-98-13689_-98-13688insC	ENSP00000465347.1:n.-98-13689_-98-13688insC
NM_007294.3:c.5147_5148insC , LRG_292t1:c.5147_5148insC	NP_009225.1:p.Trp1718LeufsTer7
NM_007297.3:c.5006_5007insC	NP_009228.2:p.Trp1671LeufsTer7
NM_007298.3:c.1835_1836insC	NP_009229.2:p.Trp614LeufsTer7
NM_007299.3:c.1835_1836insC	NP_009230.2:p.Trp614LeufsTer7
NM_007300.3:c.5210_5211insC	NP_009231.2:p.Trp1739LeufsTer7
NR_027676.1:n.5283_5284insC
NM_007294.4:c.5147_5148insC MANE Select	NP_009225.1:p.Trp1718LeufsTer7
NM_007297.4:c.5006_5007insC	NP_009228.2:p.Trp1671LeufsTer7
NM_007299.4:c.1835_1836insC	NP_009230.2:p.Trp614LeufsTer7
NM_007300.4:c.5210_5211insC	NP_009231.2:p.Trp1739LeufsTer7
NR_027676.2:n.5324_5325insC