Canonical Allele Identifier: CA2260784124

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093583_43093593delinsTCTCTTCACTG , CM000679.2:g.43093583_43093593delinsTCTCTTCACTG	GRCh38
NC_000017.10:g.41245600_41245610delinsTCTCTTCACTG , CM000679.1:g.41245600_41245610delinsTCTCTTCACTG	GRCh37
NC_000017.9:g.38499126_38499136delinsTCTCTTCACTG	NCBI36
NG_005905.2:g.124391_124401delinsCAGTGAAGAGA , LRG_292:g.124391_124401delinsCAGTGAAGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2002_2012delinsCAGTGAAGAGA
ENST00000461574.2:c.1938_1948delinsCAGTGAAGAGA	ENSP00000417241.2:p.Ser646=
ENST00000470026.6:c.1938_1948delinsCAGTGAAGAGA	ENSP00000419274.2:p.Ser646=
ENST00000473961.6:c.1812_1822delinsCAGTGAAGAGA	ENSP00000420201.2:p.Ser604=
ENST00000476777.6:c.1935_1945delinsCAGTGAAGAGA	ENSP00000417554.2:p.Ser645=
ENST00000477152.6:c.1860_1870delinsCAGTGAAGAGA	ENSP00000419988.2:p.Ser620=
ENST00000478531.6:c.784+1151_784+1161delinsCAGTGAAGAGA	ENSP00000420412.2:n.784+1151_784+1161delinsCAGTGAAGAGA
ENST00000489037.2:c.1860_1870delinsCAGTGAAGAGA	ENSP00000420781.2:p.Ser620=
ENST00000493919.6:c.646+1151_646+1161delinsCAGTGAAGAGA	ENSP00000418819.2:n.646+1151_646+1161delinsCAGTGAAGAGA
ENST00000494123.6:c.1938_1948delinsCAGTGAAGAGA	ENSP00000419103.2:p.Ser646=
ENST00000497488.2:c.1050_1060delinsCAGTGAAGAGA	ENSP00000418986.2:p.Ser350=
ENST00000618469.2:c.1938_1948delinsCAGTGAAGAGA	ENSP00000478114.2:p.Ser646=
ENST00000634433.2:c.1815_1825delinsCAGTGAAGAGA	ENSP00000489431.2:p.Ser605=
ENST00000644379.2:c.1938_1948delinsCAGTGAAGAGA	ENSP00000496570.2:p.Ser646=
ENST00000644555.2:c.646+1151_646+1161delinsCAGTGAAGAGA	ENSP00000494614.2:n.646+1151_646+1161delinsCAGTGAAGAGA
ENST00000652672.2:c.1797_1807delinsCAGTGAAGAGA	ENSP00000498906.2:p.Ser599=
ENST00000484087.6:c.664+1151_664+1161delinsCAGTGAAGAGA	ENSP00000419481.2:n.664+1151_664+1161delinsCAGTGAAGAGA
ENST00000700182.1:c.706+1151_706+1161delinsCAGTGAAGAGA	ENSP00000514849.1:n.706+1151_706+1161delinsCAGTGAAGAGA
ENST00000357654.9:c.1938_1948delinsCAGTGAAGAGA MANE Select	ENSP00000350283.3:p.Ser646=
ENST00000471181.7:c.1938_1948delinsCAGTGAAGAGA	ENSP00000418960.2:p.Ser646=
ENST00000352993.7:c.670+2253_670+2263delinsCAGTGAAGAGA	ENSP00000312236.5:n.670+2253_670+2263delinsCAGTGAAGAGA
ENST00000354071.7:c.1938_1948delinsCAGTGAAGAGA	ENSP00000326002.7:p.Ser646=
ENST00000357654.7:c.1938_1948delinsCAGTGAAGAGA	ENSP00000350283.3:p.Ser646=
ENST00000412061.3:c.1289_1299delinsCAGTGAAGAGA
ENST00000461221.5:c.*1721_*1731delinsCAGTGAAGAGA	ENSP00000418548.1:n.*1721_*1731delinsCAGTGAAGAGA
ENST00000468300.5:c.787+1151_787+1161delinsCAGTGAAGAGA	ENSP00000417148.1:n.787+1151_787+1161delinsCAGTGAAGAGA
ENST00000471181.6:c.1938_1948delinsCAGTGAAGAGA	ENSP00000418960.2:p.Ser646=
ENST00000478531.5:c.784+1151_784+1161delinsCAGTGAAGAGA	ENSP00000420412.1:n.784+1151_784+1161delinsCAGTGAAGAGA
ENST00000484087.5:c.409+1151_409+1161delinsCAGTGAAGAGA	ENSP00000419481.1:n.409+1151_409+1161delinsCAGTGAAGAGA
ENST00000487825.5:c.412+1151_412+1161delinsCAGTGAAGAGA	ENSP00000418212.1:n.412+1151_412+1161delinsCAGTGAAGAGA
ENST00000491747.6:c.787+1151_787+1161delinsCAGTGAAGAGA	ENSP00000420705.2:n.787+1151_787+1161delinsCAGTGAAGAGA
ENST00000493795.5:c.1797_1807delinsCAGTGAAGAGA	ENSP00000418775.1:p.Ser599=
ENST00000493919.5:c.646+1151_646+1161delinsCAGTGAAGAGA	ENSP00000418819.1:n.646+1151_646+1161delinsCAGTGAAGAGA
ENST00000586385.5:c.5-29642_5-29632delinsCAGTGAAGAGA	ENSP00000465818.1:n.5-29642_5-29632delinsCAGTGAAGAGA
ENST00000591534.5:c.-43-19072_-43-19062delinsCAGTGAAGAGA	ENSP00000467329.1:n.-43-19072_-43-19062delinsCAGTGAAGAGA
ENST00000591849.5:c.-99+31678_-99+31688delinsCAGTGAAGAGA	ENSP00000465347.1:n.-99+31678_-99+31688delinsCAGTGAAGAGA
ENST00000634433.1:c.1815_1825delinsCAGTGAAGAGA	ENSP00000489431.1:p.Ser605=
NM_007294.3:c.1938_1948delinsCAGTGAAGAGA , LRG_292t1:c.1938_1948delinsCAGTGAAGAGA	NP_009225.1:p.Ser646=
NM_007297.3:c.1797_1807delinsCAGTGAAGAGA	NP_009228.2:p.Ser599=
NM_007298.3:c.787+1151_787+1161delinsCAGTGAAGAGA	NP_009229.2:n.787+1151_787+1161delinsCAGTGAAGAGA
NM_007299.3:c.787+1151_787+1161delinsCAGTGAAGAGA	NP_009230.2:n.787+1151_787+1161delinsCAGTGAAGAGA
NM_007300.3:c.1938_1948delinsCAGTGAAGAGA	NP_009231.2:p.Ser646=
NR_027676.1:n.2074_2084delinsCAGTGAAGAGA
NM_007294.4:c.1938_1948delinsCAGTGAAGAGA MANE Select	NP_009225.1:p.Ser646=
NM_007297.4:c.1797_1807delinsCAGTGAAGAGA	NP_009228.2:p.Ser599=
NM_007299.4:c.787+1151_787+1161delinsCAGTGAAGAGA	NP_009230.2:n.787+1151_787+1161delinsCAGTGAAGAGA
NM_007300.4:c.1938_1948delinsCAGTGAAGAGA	NP_009231.2:p.Ser646=
NR_027676.2:n.2115_2125delinsCAGTGAAGAGA