Canonical Allele Identifier: CA2638036164

Gene: BRCA1

Linked Data

• gnomAD v4: 17-43093076-A-AACAACCATGAATTAGTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093077_43093094dup , CM000679.2:g.43093077_43093094dup	GRCh38
NC_000017.10:g.41245094_41245111dup , CM000679.1:g.41245094_41245111dup	GRCh37
NC_000017.9:g.38498620_38498637dup	NCBI36
NG_005905.2:g.124890_124907dup , LRG_292:g.124890_124907dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2501_2518dup
ENST00000461574.2:c.2437_2454dup	ENSP00000417241.2:p.Cys818_Ser819insGlyLeuIleHisGlyCys
ENST00000470026.6:c.2437_2454dup	ENSP00000419274.2:p.Cys818_Ser819insGlyLeuIleHisGlyCys
ENST00000473961.6:c.2311_2328dup	ENSP00000420201.2:p.Cys776_Ser777insGlyLeuIleHisGlyCys
ENST00000476777.6:c.2434_2451dup	ENSP00000417554.2:p.Cys817_Ser818insGlyLeuIleHisGlyCys
ENST00000477152.6:c.2359_2376dup	ENSP00000419988.2:p.Cys792_Ser793insGlyLeuIleHisGlyCys
ENST00000478531.6:c.784+1650_784+1667dup	ENSP00000420412.2:n.784+1650_784+1667dup
ENST00000489037.2:c.2359_2376dup	ENSP00000420781.2:p.Cys792_Ser793insGlyLeuIleHisGlyCys
ENST00000493919.6:c.646+1650_646+1667dup	ENSP00000418819.2:n.646+1650_646+1667dup
ENST00000494123.6:c.2437_2454dup	ENSP00000419103.2:p.Cys818_Ser819insGlyLeuIleHisGlyCys
ENST00000497488.2:c.1549_1566dup	ENSP00000418986.2:p.Cys522_Ser523insGlyLeuIleHisGlyCys
ENST00000618469.2:c.2437_2454dup	ENSP00000478114.2:p.Cys818_Ser819insGlyLeuIleHisGlyCys
ENST00000634433.2:c.2314_2331dup	ENSP00000489431.2:p.Cys777_Ser778insGlyLeuIleHisGlyCys
ENST00000644379.2:c.2437_2454dup	ENSP00000496570.2:p.Cys818_Ser819insGlyLeuIleHisGlyCys
ENST00000644555.2:c.646+1650_646+1667dup	ENSP00000494614.2:n.646+1650_646+1667dup
ENST00000652672.2:c.2296_2313dup	ENSP00000498906.2:p.Cys771_Ser772insGlyLeuIleHisGlyCys
ENST00000484087.6:c.664+1650_664+1667dup	ENSP00000419481.2:n.664+1650_664+1667dup
ENST00000700182.1:c.706+1650_706+1667dup	ENSP00000514849.1:n.706+1650_706+1667dup
ENST00000357654.9:c.2437_2454dup MANE Select	ENSP00000350283.3:p.Cys818_Ser819insGlyLeuIleHisGlyCys
ENST00000471181.7:c.2437_2454dup	ENSP00000418960.2:p.Cys818_Ser819insGlyLeuIleHisGlyCys
ENST00000352993.7:c.671-2062_671-2045dup	ENSP00000312236.5:n.671-2062_671-2045dup
ENST00000354071.7:c.2437_2454dup	ENSP00000326002.7:p.Cys818_Ser819insGlyLeuIleHisGlyCys
ENST00000357654.7:c.2437_2454dup	ENSP00000350283.3:p.Cys818_Ser819insGlyLeuIleHisGlyCys
ENST00000461221.5:c.*2220_*2237dup	ENSP00000418548.1:n.*2220_*2237dup
ENST00000468300.5:c.787+1650_787+1667dup	ENSP00000417148.1:n.787+1650_787+1667dup
ENST00000471181.6:c.2437_2454dup	ENSP00000418960.2:p.Cys818_Ser819insGlyLeuIleHisGlyCys
ENST00000478531.5:c.784+1650_784+1667dup	ENSP00000420412.1:n.784+1650_784+1667dup
ENST00000484087.5:c.409+1650_409+1667dup	ENSP00000419481.1:n.409+1650_409+1667dup
ENST00000487825.5:c.412+1650_412+1667dup	ENSP00000418212.1:n.412+1650_412+1667dup
ENST00000491747.6:c.787+1650_787+1667dup	ENSP00000420705.2:n.787+1650_787+1667dup
ENST00000493795.5:c.2296_2313dup	ENSP00000418775.1:p.Cys771_Ser772insGlyLeuIleHisGlyCys
ENST00000493919.5:c.646+1650_646+1667dup	ENSP00000418819.1:n.646+1650_646+1667dup
ENST00000586385.5:c.5-29143_5-29126dup	ENSP00000465818.1:n.5-29143_5-29126dup
ENST00000591534.5:c.-43-18573_-43-18556dup	ENSP00000467329.1:n.-43-18573_-43-18556dup
ENST00000591849.5:c.-99+32177_-99+32194dup	ENSP00000465347.1:n.-99+32177_-99+32194dup
ENST00000634433.1:c.2314_2331dup	ENSP00000489431.1:p.Cys777_Ser778insGlyLeuIleHisGlyCys
NM_007294.3:c.2437_2454dup , LRG_292t1:c.2437_2454dup	NP_009225.1:p.Cys818_Ser819insGlyLeuIleHisGlyCys
NM_007297.3:c.2296_2313dup	NP_009228.2:p.Cys771_Ser772insGlyLeuIleHisGlyCys
NM_007298.3:c.787+1650_787+1667dup	NP_009229.2:n.787+1650_787+1667dup
NM_007299.3:c.787+1650_787+1667dup	NP_009230.2:n.787+1650_787+1667dup
NM_007300.3:c.2437_2454dup	NP_009231.2:p.Cys818_Ser819insGlyLeuIleHisGlyCys
NR_027676.1:n.2573_2590dup
NM_007294.4:c.2437_2454dup MANE Select	NP_009225.1:p.Cys818_Ser819insGlyLeuIleHisGlyCys
NM_007297.4:c.2296_2313dup	NP_009228.2:p.Cys771_Ser772insGlyLeuIleHisGlyCys
NM_007299.4:c.787+1650_787+1667dup	NP_009230.2:n.787+1650_787+1667dup
NM_007300.4:c.2437_2454dup	NP_009231.2:p.Cys818_Ser819insGlyLeuIleHisGlyCys
NR_027676.2:n.2614_2631dup