Canonical Allele Identifier: CA10589878

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 266234
• ClinVar RCV Id: RCV000256848
• dbSNP Id: rs397508948
• MyVariant Identifiers: chr17:g.41245352_41245353delinsC (hg19) ; chr17:g.43093335_43093336delinsC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093335_43093336delinsC , CM000679.2:g.43093335_43093336delinsC	GRCh38
NC_000017.10:g.41245352_41245353delinsC , CM000679.1:g.41245352_41245353delinsC	GRCh37
NC_000017.9:g.38498878_38498879delinsC	NCBI36
NG_005905.2:g.124648_124649delinsG , LRG_292:g.124648_124649delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2259_2260delinsG
ENST00000461574.2:c.2195_2196delinsG	ENSP00000417241.2:p.Glu732GlyfsTer4
ENST00000470026.6:c.2195_2196delinsG	ENSP00000419274.2:p.Glu732GlyfsTer4
ENST00000473961.6:c.2069_2070delinsG	ENSP00000420201.2:p.Glu690GlyfsTer4
ENST00000476777.6:c.2192_2193delinsG	ENSP00000417554.2:p.Glu731GlyfsTer4
ENST00000477152.6:c.2117_2118delinsG	ENSP00000419988.2:p.Glu706GlyfsTer4
ENST00000478531.6:c.784+1408_784+1409delinsG	ENSP00000420412.2:n.784+1408_784+1409delinsG
ENST00000489037.2:c.2117_2118delinsG	ENSP00000420781.2:p.Glu706GlyfsTer4
ENST00000493919.6:c.646+1408_646+1409delinsG	ENSP00000418819.2:n.646+1408_646+1409delinsG
ENST00000494123.6:c.2195_2196delinsG	ENSP00000419103.2:p.Glu732GlyfsTer4
ENST00000497488.2:c.1307_1308delinsG	ENSP00000418986.2:p.Glu436GlyfsTer4
ENST00000618469.2:c.2195_2196delinsG	ENSP00000478114.2:p.Glu732GlyfsTer4
ENST00000634433.2:c.2072_2073delinsG	ENSP00000489431.2:p.Glu691GlyfsTer4
ENST00000644379.2:c.2195_2196delinsG	ENSP00000496570.2:p.Glu732GlyfsTer4
ENST00000644555.2:c.646+1408_646+1409delinsG	ENSP00000494614.2:n.646+1408_646+1409delinsG
ENST00000652672.2:c.2054_2055delinsG	ENSP00000498906.2:p.Glu685GlyfsTer4
ENST00000484087.6:c.664+1408_664+1409delinsG	ENSP00000419481.2:n.664+1408_664+1409delinsG
ENST00000700182.1:c.706+1408_706+1409delinsG	ENSP00000514849.1:n.706+1408_706+1409delinsG
ENST00000357654.9:c.2195_2196delinsG MANE Select	ENSP00000350283.3:p.Glu732GlyfsTer4
ENST00000471181.7:c.2195_2196delinsG	ENSP00000418960.2:p.Glu732GlyfsTer4
ENST00000352993.7:c.671-2304_671-2303delinsG	ENSP00000312236.5:n.671-2304_671-2303delinsG
ENST00000354071.7:c.2195_2196delinsG	ENSP00000326002.7:p.Glu732GlyfsTer4
ENST00000357654.7:c.2195_2196delinsG	ENSP00000350283.3:p.Glu732GlyfsTer4
ENST00000461221.5:c.*1978_*1979delinsG	ENSP00000418548.1:n.*1978_*1979delinsG
ENST00000468300.5:c.787+1408_787+1409delinsG	ENSP00000417148.1:n.787+1408_787+1409delinsG
ENST00000471181.6:c.2195_2196delinsG	ENSP00000418960.2:p.Glu732GlyfsTer4
ENST00000478531.5:c.784+1408_784+1409delinsG	ENSP00000420412.1:n.784+1408_784+1409delinsG
ENST00000484087.5:c.409+1408_409+1409delinsG	ENSP00000419481.1:n.409+1408_409+1409delinsG
ENST00000487825.5:c.412+1408_412+1409delinsG	ENSP00000418212.1:n.412+1408_412+1409delinsG
ENST00000491747.6:c.787+1408_787+1409delinsG	ENSP00000420705.2:n.787+1408_787+1409delinsG
ENST00000493795.5:c.2054_2055delinsG	ENSP00000418775.1:p.Glu685GlyfsTer4
ENST00000493919.5:c.646+1408_646+1409delinsG	ENSP00000418819.1:n.646+1408_646+1409delinsG
ENST00000586385.5:c.5-29385_5-29384delinsG	ENSP00000465818.1:n.5-29385_5-29384delinsG
ENST00000591534.5:c.-43-18815_-43-18814delinsG	ENSP00000467329.1:n.-43-18815_-43-18814delinsG
ENST00000591849.5:c.-99+31935_-99+31936delinsG	ENSP00000465347.1:n.-99+31935_-99+31936delinsG
ENST00000634433.1:c.2072_2073delinsG	ENSP00000489431.1:p.Glu691GlyfsTer4
NM_007294.3:c.2195_2196delinsG , LRG_292t1:c.2195_2196delinsG	NP_009225.1:p.Glu732GlyfsTer4
NM_007297.3:c.2054_2055delinsG	NP_009228.2:p.Glu685GlyfsTer4
NM_007298.3:c.787+1408_787+1409delinsG	NP_009229.2:n.787+1408_787+1409delinsG
NM_007299.3:c.787+1408_787+1409delinsG	NP_009230.2:n.787+1408_787+1409delinsG
NM_007300.3:c.2195_2196delinsG	NP_009231.2:p.Glu732GlyfsTer4
NR_027676.1:n.2331_2332delinsG
NM_007294.4:c.2195_2196delinsG MANE Select	NP_009225.1:p.Glu732GlyfsTer4
NM_007297.4:c.2054_2055delinsG	NP_009228.2:p.Glu685GlyfsTer4
NM_007299.4:c.787+1408_787+1409delinsG	NP_009230.2:n.787+1408_787+1409delinsG
NM_007300.4:c.2195_2196delinsG	NP_009231.2:p.Glu732GlyfsTer4
NR_027676.2:n.2372_2373delinsG