Canonical Allele Identifier: CA2260783988

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093456_43093457delinsTG , CM000679.2:g.43093456_43093457delinsTG	GRCh38
NC_000017.10:g.41245473_41245474delinsTG , CM000679.1:g.41245473_41245474delinsTG	GRCh37
NC_000017.9:g.38498999_38499000delinsTG	NCBI36
NG_005905.2:g.124527_124528delinsCA , LRG_292:g.124527_124528delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2138_2139delinsCA
ENST00000461574.2:c.2074_2075delinsCA	ENSP00000417241.2:p.His692=
ENST00000470026.6:c.2074_2075delinsCA	ENSP00000419274.2:p.His692=
ENST00000473961.6:c.1948_1949delinsCA	ENSP00000420201.2:p.His650=
ENST00000476777.6:c.2071_2072delinsCA	ENSP00000417554.2:p.His691=
ENST00000477152.6:c.1996_1997delinsCA	ENSP00000419988.2:p.His666=
ENST00000478531.6:c.784+1287_784+1288delinsCA	ENSP00000420412.2:n.784+1287_784+1288delinsCA
ENST00000489037.2:c.1996_1997delinsCA	ENSP00000420781.2:p.His666=
ENST00000493919.6:c.646+1287_646+1288delinsCA	ENSP00000418819.2:n.646+1287_646+1288delinsCA
ENST00000494123.6:c.2074_2075delinsCA	ENSP00000419103.2:p.His692=
ENST00000497488.2:c.1186_1187delinsCA	ENSP00000418986.2:p.His396=
ENST00000618469.2:c.2074_2075delinsCA	ENSP00000478114.2:p.His692=
ENST00000634433.2:c.1951_1952delinsCA	ENSP00000489431.2:p.His651=
ENST00000644379.2:c.2074_2075delinsCA	ENSP00000496570.2:p.His692=
ENST00000644555.2:c.646+1287_646+1288delinsCA	ENSP00000494614.2:n.646+1287_646+1288delinsCA
ENST00000652672.2:c.1933_1934delinsCA	ENSP00000498906.2:p.His645=
ENST00000484087.6:c.664+1287_664+1288delinsCA	ENSP00000419481.2:n.664+1287_664+1288delinsCA
ENST00000700182.1:c.706+1287_706+1288delinsCA	ENSP00000514849.1:n.706+1287_706+1288delinsCA
ENST00000357654.9:c.2074_2075delinsCA MANE Select	ENSP00000350283.3:p.His692=
ENST00000471181.7:c.2074_2075delinsCA	ENSP00000418960.2:p.His692=
ENST00000352993.7:c.670+2389_670+2390delinsCA	ENSP00000312236.5:n.670+2389_670+2390delinsCA
ENST00000354071.7:c.2074_2075delinsCA	ENSP00000326002.7:p.His692=
ENST00000357654.7:c.2074_2075delinsCA	ENSP00000350283.3:p.His692=
ENST00000461221.5:c.*1857_*1858delinsCA	ENSP00000418548.1:n.*1857_*1858delinsCA
ENST00000468300.5:c.787+1287_787+1288delinsCA	ENSP00000417148.1:n.787+1287_787+1288delinsCA
ENST00000471181.6:c.2074_2075delinsCA	ENSP00000418960.2:p.His692=
ENST00000478531.5:c.784+1287_784+1288delinsCA	ENSP00000420412.1:n.784+1287_784+1288delinsCA
ENST00000484087.5:c.409+1287_409+1288delinsCA	ENSP00000419481.1:n.409+1287_409+1288delinsCA
ENST00000487825.5:c.412+1287_412+1288delinsCA	ENSP00000418212.1:n.412+1287_412+1288delinsCA
ENST00000491747.6:c.787+1287_787+1288delinsCA	ENSP00000420705.2:n.787+1287_787+1288delinsCA
ENST00000493795.5:c.1933_1934delinsCA	ENSP00000418775.1:p.His645=
ENST00000493919.5:c.646+1287_646+1288delinsCA	ENSP00000418819.1:n.646+1287_646+1288delinsCA
ENST00000586385.5:c.5-29506_5-29505delinsCA	ENSP00000465818.1:n.5-29506_5-29505delinsCA
ENST00000591534.5:c.-43-18936_-43-18935delinsCA	ENSP00000467329.1:n.-43-18936_-43-18935delinsCA
ENST00000591849.5:c.-99+31814_-99+31815delinsCA	ENSP00000465347.1:n.-99+31814_-99+31815delinsCA
ENST00000634433.1:c.1951_1952delinsCA	ENSP00000489431.1:p.His651=
NM_007294.3:c.2074_2075delinsCA , LRG_292t1:c.2074_2075delinsCA	NP_009225.1:p.His692=
NM_007297.3:c.1933_1934delinsCA	NP_009228.2:p.His645=
NM_007298.3:c.787+1287_787+1288delinsCA	NP_009229.2:n.787+1287_787+1288delinsCA
NM_007299.3:c.787+1287_787+1288delinsCA	NP_009230.2:n.787+1287_787+1288delinsCA
NM_007300.3:c.2074_2075delinsCA	NP_009231.2:p.His692=
NR_027676.1:n.2210_2211delinsCA
NM_007294.4:c.2074_2075delinsCA MANE Select	NP_009225.1:p.His692=
NM_007297.4:c.1933_1934delinsCA	NP_009228.2:p.His645=
NM_007299.4:c.787+1287_787+1288delinsCA	NP_009230.2:n.787+1287_787+1288delinsCA
NM_007300.4:c.2074_2075delinsCA	NP_009231.2:p.His692=
NR_027676.2:n.2251_2252delinsCA