Canonical Allele Identifier: CA2260785069

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094577_43094582delinsATGTTG , CM000679.2:g.43094577_43094582delinsATGTTG	GRCh38
NC_000017.10:g.41246594_41246599delinsATGTTG , CM000679.1:g.41246594_41246599delinsATGTTG	GRCh37
NC_000017.9:g.38500120_38500125delinsATGTTG	NCBI36
NG_005905.2:g.123402_123407delinsCAACAT , LRG_292:g.123402_123407delinsCAACAT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.1013_1018delinsCAACAT
ENST00000461574.2:c.949_954delinsCAACAT	ENSP00000417241.2:p.Gln317=
ENST00000470026.6:c.949_954delinsCAACAT	ENSP00000419274.2:p.Gln317=
ENST00000473961.6:c.823_828delinsCAACAT	ENSP00000420201.2:p.Gln275=
ENST00000476777.6:c.946_951delinsCAACAT	ENSP00000417554.2:p.Gln316=
ENST00000477152.6:c.871_876delinsCAACAT	ENSP00000419988.2:p.Gln291=
ENST00000478531.6:c.784+162_784+167delinsCAACAT	ENSP00000420412.2:n.784+162_784+167delinsCAACAT
ENST00000489037.2:c.871_876delinsCAACAT	ENSP00000420781.2:p.Gln291=
ENST00000493919.6:c.646+162_646+167delinsCAACAT	ENSP00000418819.2:n.646+162_646+167delinsCAACAT
ENST00000494123.6:c.949_954delinsCAACAT	ENSP00000419103.2:p.Gln317=
ENST00000497488.2:c.61_66delinsCAACAT	ENSP00000418986.2:p.Gln21=
ENST00000618469.2:c.949_954delinsCAACAT	ENSP00000478114.2:p.Gln317=
ENST00000634433.2:c.826_831delinsCAACAT	ENSP00000489431.2:p.Gln276=
ENST00000644379.2:c.949_954delinsCAACAT	ENSP00000496570.2:p.Gln317=
ENST00000644555.2:c.646+162_646+167delinsCAACAT	ENSP00000494614.2:n.646+162_646+167delinsCAACAT
ENST00000652672.2:c.808_813delinsCAACAT	ENSP00000498906.2:p.Gln270=
ENST00000484087.6:c.664+162_664+167delinsCAACAT	ENSP00000419481.2:n.664+162_664+167delinsCAACAT
ENST00000700182.1:c.706+162_706+167delinsCAACAT	ENSP00000514849.1:n.706+162_706+167delinsCAACAT
ENST00000700183.1:c.*957_*962delinsCAACAT	ENSP00000514850.1:n.*957_*962delinsCAACAT
ENST00000357654.9:c.949_954delinsCAACAT MANE Select	ENSP00000350283.3:p.Gln317=
ENST00000471181.7:c.949_954delinsCAACAT	ENSP00000418960.2:p.Gln317=
ENST00000642945.1:c.*823_*828delinsCAACAT	ENSP00000495897.1:n.*823_*828delinsCAACAT
ENST00000652672.1:c.808_813delinsCAACAT	ENSP00000498906.1:p.Gln270=
ENST00000352993.7:c.670+1264_670+1269delinsCAACAT	ENSP00000312236.5:n.670+1264_670+1269delinsCAACAT
ENST00000354071.7:c.949_954delinsCAACAT	ENSP00000326002.7:p.Gln317=
ENST00000357654.7:c.949_954delinsCAACAT	ENSP00000350283.3:p.Gln317=
ENST00000412061.3:c.300_305delinsCAACAT
ENST00000461221.5:c.*732_*737delinsCAACAT	ENSP00000418548.1:n.*732_*737delinsCAACAT
ENST00000468300.5:c.787+162_787+167delinsCAACAT	ENSP00000417148.1:n.787+162_787+167delinsCAACAT
ENST00000470026.5:c.949_954delinsCAACAT	ENSP00000419274.1:p.Gln317=
ENST00000471181.6:c.949_954delinsCAACAT	ENSP00000418960.2:p.Gln317=
ENST00000473961.5:c.546_551delinsCAACAT
ENST00000477152.5:c.871_876delinsCAACAT	ENSP00000419988.1:p.Gln291=
ENST00000478531.5:c.784+162_784+167delinsCAACAT	ENSP00000420412.1:n.784+162_784+167delinsCAACAT
ENST00000484087.5:c.409+162_409+167delinsCAACAT	ENSP00000419481.1:n.409+162_409+167delinsCAACAT
ENST00000487825.5:c.412+162_412+167delinsCAACAT	ENSP00000418212.1:n.412+162_412+167delinsCAACAT
ENST00000491747.6:c.787+162_787+167delinsCAACAT	ENSP00000420705.2:n.787+162_787+167delinsCAACAT
ENST00000492859.5:c.*885_*890delinsCAACAT	ENSP00000420253.1:n.*885_*890delinsCAACAT
ENST00000493795.5:c.808_813delinsCAACAT	ENSP00000418775.1:p.Gln270=
ENST00000493919.5:c.646+162_646+167delinsCAACAT	ENSP00000418819.1:n.646+162_646+167delinsCAACAT
ENST00000494123.5:c.949_954delinsCAACAT	ENSP00000419103.1:p.Gln317=
ENST00000497488.1:c.61_66delinsCAACAT	ENSP00000418986.1:p.Gln21=
ENST00000586385.5:c.4+30600_4+30605delinsCAACAT	ENSP00000465818.1:n.4+30600_4+30605delinsCAACAT
ENST00000591534.5:c.-43-20061_-43-20056delinsCAACAT	ENSP00000467329.1:n.-43-20061_-43-20056delinsCAACAT
ENST00000591849.5:c.-99+30689_-99+30694delinsCAACAT	ENSP00000465347.1:n.-99+30689_-99+30694delinsCAACAT
ENST00000634433.1:c.826_831delinsCAACAT	ENSP00000489431.1:p.Gln276=
NM_007294.3:c.949_954delinsCAACAT , LRG_292t1:c.949_954delinsCAACAT	NP_009225.1:p.Gln317=
NM_007297.3:c.808_813delinsCAACAT	NP_009228.2:p.Gln270=
NM_007298.3:c.787+162_787+167delinsCAACAT	NP_009229.2:n.787+162_787+167delinsCAACAT
NM_007299.3:c.787+162_787+167delinsCAACAT	NP_009230.2:n.787+162_787+167delinsCAACAT
NM_007300.3:c.949_954delinsCAACAT	NP_009231.2:p.Gln317=
NR_027676.1:n.1085_1090delinsCAACAT
NM_007294.4:c.949_954delinsCAACAT MANE Select	NP_009225.1:p.Gln317=
NM_007297.4:c.808_813delinsCAACAT	NP_009228.2:p.Gln270=
NM_007299.4:c.787+162_787+167delinsCAACAT	NP_009230.2:n.787+162_787+167delinsCAACAT
NM_007300.4:c.949_954delinsCAACAT	NP_009231.2:p.Gln317=
NR_027676.2:n.1126_1131delinsCAACAT