Canonical Allele Identifier: CA2260783316

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092936_43092942delinsCTTTGAA , CM000679.2:g.43092936_43092942delinsCTTTGAA	GRCh38
NC_000017.10:g.41244953_41244959delinsCTTTGAA , CM000679.1:g.41244953_41244959delinsCTTTGAA	GRCh37
NC_000017.9:g.38498479_38498485delinsCTTTGAA	NCBI36
NG_005905.2:g.125042_125048delinsTTCAAAG , LRG_292:g.125042_125048delinsTTCAAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2653_2659delinsTTCAAAG
ENST00000461574.2:c.2589_2595delinsTTCAAAG	ENSP00000417241.2:p.Val863=
ENST00000470026.6:c.2589_2595delinsTTCAAAG	ENSP00000419274.2:p.Val863=
ENST00000473961.6:c.2463_2469delinsTTCAAAG	ENSP00000420201.2:p.Val821=
ENST00000476777.6:c.2586_2592delinsTTCAAAG	ENSP00000417554.2:p.Val862=
ENST00000477152.6:c.2511_2517delinsTTCAAAG	ENSP00000419988.2:p.Val837=
ENST00000478531.6:c.784+1802_784+1808delinsTTCAAAG	ENSP00000420412.2:n.784+1802_784+1808deli...
ENST00000489037.2:c.2511_2517delinsTTCAAAG	ENSP00000420781.2:p.Val837=
ENST00000493919.6:c.646+1802_646+1808delinsTTCAAAG	ENSP00000418819.2:n.646+1802_646+1808deli...
ENST00000494123.6:c.2589_2595delinsTTCAAAG	ENSP00000419103.2:p.Val863=
ENST00000497488.2:c.1701_1707delinsTTCAAAG	ENSP00000418986.2:p.Val567=
ENST00000618469.2:c.2589_2595delinsTTCAAAG	ENSP00000478114.2:p.Val863=
ENST00000634433.2:c.2466_2472delinsTTCAAAG	ENSP00000489431.2:p.Val822=
ENST00000644379.2:c.2589_2595delinsTTCAAAG	ENSP00000496570.2:p.Val863=
ENST00000644555.2:c.646+1802_646+1808delinsTTCAAAG	ENSP00000494614.2:n.646+1802_646+1808deli...
ENST00000652672.2:c.2448_2454delinsTTCAAAG	ENSP00000498906.2:p.Val816=
ENST00000484087.6:c.664+1802_664+1808delinsTTCAAAG	ENSP00000419481.2:n.664+1802_664+1808deli...
ENST00000700182.1:c.706+1802_706+1808delinsTTCAAAG	ENSP00000514849.1:n.706+1802_706+1808deli...
ENST00000357654.9:c.2589_2595delinsTTCAAAG MANE Select	ENSP00000350283.3:p.Val863=
ENST00000471181.7:c.2589_2595delinsTTCAAAG	ENSP00000418960.2:p.Val863=
ENST00000352993.7:c.671-1910_671-1904delinsTTCAAAG	ENSP00000312236.5:n.671-1910_671-1904deli...
ENST00000354071.7:c.2589_2595delinsTTCAAAG	ENSP00000326002.7:p.Val863=
ENST00000357654.7:c.2589_2595delinsTTCAAAG	ENSP00000350283.3:p.Val863=
ENST00000461221.5:c.*2372_*2378delinsTTCAAAG	ENSP00000418548.1:n.*2372_*2378delinsTTCA...
ENST00000468300.5:c.787+1802_787+1808delinsTTCAAAG	ENSP00000417148.1:n.787+1802_787+1808deli...
ENST00000471181.6:c.2589_2595delinsTTCAAAG	ENSP00000418960.2:p.Val863=
ENST00000478531.5:c.784+1802_784+1808delinsTTCAAAG	ENSP00000420412.1:n.784+1802_784+1808deli...
ENST00000484087.5:c.409+1802_409+1808delinsTTCAAAG	ENSP00000419481.1:n.409+1802_409+1808deli...
ENST00000487825.5:c.412+1802_412+1808delinsTTCAAAG	ENSP00000418212.1:n.412+1802_412+1808deli...
ENST00000491747.6:c.787+1802_787+1808delinsTTCAAAG	ENSP00000420705.2:n.787+1802_787+1808deli...
ENST00000493795.5:c.2448_2454delinsTTCAAAG	ENSP00000418775.1:p.Val816=
ENST00000493919.5:c.646+1802_646+1808delinsTTCAAAG	ENSP00000418819.1:n.646+1802_646+1808deli...
ENST00000586385.5:c.5-28991_5-28985delinsTTCAAAG	ENSP00000465818.1:n.5-28991_5-28985delins...
ENST00000591534.5:c.-43-18421_-43-18415delinsTTCAAAG	ENSP00000467329.1:n.-43-18421_-43-18415de...
ENST00000591849.5:c.-99+32329_-99+32335delinsTTCAAAG	ENSP00000465347.1:n.-99+32329_-99+32335de...
NM_007294.3:c.2589_2595delinsTTCAAAG , LRG_292t1:c.2589_2595delinsTTCAAAG	NP_009225.1:p.Val863=
NM_007297.3:c.2448_2454delinsTTCAAAG	NP_009228.2:p.Val816=
NM_007298.3:c.787+1802_787+1808delinsTTCAAAG	NP_009229.2:n.787+1802_787+1808delinsTTCA...
NM_007299.3:c.787+1802_787+1808delinsTTCAAAG	NP_009230.2:n.787+1802_787+1808delinsTTCA...
NM_007300.3:c.2589_2595delinsTTCAAAG	NP_009231.2:p.Val863=
NR_027676.1:n.2725_2731delinsTTCAAAG
NM_007294.4:c.2589_2595delinsTTCAAAG MANE Select	NP_009225.1:p.Val863=
NM_007297.4:c.2448_2454delinsTTCAAAG	NP_009228.2:p.Val816=
NM_007299.4:c.787+1802_787+1808delinsTTCAAAG	NP_009230.2:n.787+1802_787+1808delinsTTCA...
NM_007300.4:c.2589_2595delinsTTCAAAG	NP_009231.2:p.Val863=
NR_027676.2:n.2766_2772delinsTTCAAAG