Canonical Allele Identifier: CA2260782023

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091543_43091546delinsTTTC , CM000679.2:g.43091543_43091546delinsTTTC	GRCh38
NC_000017.10:g.41243560_41243563delinsTTTC , CM000679.1:g.41243560_41243563delinsTTTC	GRCh37
NC_000017.9:g.38497086_38497089delinsTTTC	NCBI36
NG_005905.2:g.126438_126441delinsGAAA , LRG_292:g.126438_126441delinsGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4049_4052delinsGAAA
ENST00000461574.2:c.3985_3988delinsGAAA	ENSP00000417241.2:p.Glu1329=
ENST00000470026.6:c.3985_3988delinsGAAA	ENSP00000419274.2:p.Glu1329=
ENST00000473961.6:c.3859_3862delinsGAAA	ENSP00000420201.2:p.Glu1287=
ENST00000476777.6:c.3982_3985delinsGAAA	ENSP00000417554.2:p.Glu1328=
ENST00000477152.6:c.3907_3910delinsGAAA	ENSP00000419988.2:p.Glu1303=
ENST00000478531.6:c.785-514_785-511delinsGAAA	ENSP00000420412.2:n.785-514_785-511delinsGAAA
ENST00000489037.2:c.3907_3910delinsGAAA	ENSP00000420781.2:p.Glu1303=
ENST00000493919.6:c.647-514_647-511delinsGAAA	ENSP00000418819.2:n.647-514_647-511delinsGAAA
ENST00000494123.6:c.3985_3988delinsGAAA	ENSP00000419103.2:p.Glu1329=
ENST00000497488.2:c.3097_3100delinsGAAA	ENSP00000418986.2:p.Glu1033=
ENST00000618469.2:c.3985_3988delinsGAAA	ENSP00000478114.2:p.Glu1329=
ENST00000634433.2:c.3862_3865delinsGAAA	ENSP00000489431.2:p.Glu1288=
ENST00000644379.2:c.3985_3988delinsGAAA	ENSP00000496570.2:p.Glu1329=
ENST00000644555.2:c.647-514_647-511delinsGAAA	ENSP00000494614.2:n.647-514_647-511delinsGAAA
ENST00000652672.2:c.3844_3847delinsGAAA	ENSP00000498906.2:p.Glu1282=
ENST00000484087.6:c.665-514_665-511delinsGAAA	ENSP00000419481.2:n.665-514_665-511delinsGAAA
ENST00000700182.1:c.707-514_707-511delinsGAAA	ENSP00000514849.1:n.707-514_707-511delinsGAAA
ENST00000357654.9:c.3985_3988delinsGAAA MANE Select	ENSP00000350283.3:p.Glu1329=
ENST00000471181.7:c.3985_3988delinsGAAA	ENSP00000418960.2:p.Glu1329=
ENST00000644379.1:c.306_309delinsGAAA
ENST00000352993.7:c.671-514_671-511delinsGAAA	ENSP00000312236.5:n.671-514_671-511delinsGAAA
ENST00000354071.7:c.3985_3988delinsGAAA	ENSP00000326002.7:p.Glu1329=
ENST00000357654.7:c.3985_3988delinsGAAA	ENSP00000350283.3:p.Glu1329=
ENST00000461221.5:c.*3768_*3771delinsGAAA	ENSP00000418548.1:n.*3768_*3771delinsGAAA
ENST00000461574.1:c.279_282delinsGAAA
ENST00000468300.5:c.788-514_788-511delinsGAAA	ENSP00000417148.1:n.788-514_788-511delinsGAAA
ENST00000471181.6:c.3985_3988delinsGAAA	ENSP00000418960.2:p.Glu1329=
ENST00000478531.5:c.785-514_785-511delinsGAAA	ENSP00000420412.1:n.785-514_785-511delinsGAAA
ENST00000484087.5:c.410-514_410-511delinsGAAA	ENSP00000419481.1:n.410-514_410-511delinsGAAA
ENST00000487825.5:c.413-514_413-511delinsGAAA	ENSP00000418212.1:n.413-514_413-511delinsGAAA
ENST00000491747.6:c.788-514_788-511delinsGAAA	ENSP00000420705.2:n.788-514_788-511delinsGAAA
ENST00000493795.5:c.3844_3847delinsGAAA	ENSP00000418775.1:p.Glu1282=
ENST00000493919.5:c.647-514_647-511delinsGAAA	ENSP00000418819.1:n.647-514_647-511delinsGAAA
ENST00000586385.5:c.5-27595_5-27592delinsGAAA	ENSP00000465818.1:n.5-27595_5-27592delinsGAAA
ENST00000591534.5:c.-43-17025_-43-17022delinsGAAA	ENSP00000467329.1:n.-43-17025_-43-17022delinsGAAA
ENST00000591849.5:c.-99+33725_-99+33728delinsGAAA	ENSP00000465347.1:n.-99+33725_-99+33728delinsGAAA
NM_007294.3:c.3985_3988delinsGAAA , LRG_292t1:c.3985_3988delinsGAAA	NP_009225.1:p.Glu1329=
NM_007297.3:c.3844_3847delinsGAAA	NP_009228.2:p.Glu1282=
NM_007298.3:c.788-514_788-511delinsGAAA	NP_009229.2:n.788-514_788-511delinsGAAA
NM_007299.3:c.788-514_788-511delinsGAAA	NP_009230.2:n.788-514_788-511delinsGAAA
NM_007300.3:c.3985_3988delinsGAAA	NP_009231.2:p.Glu1329=
NR_027676.1:n.4121_4124delinsGAAA
NM_007294.4:c.3985_3988delinsGAAA MANE Select	NP_009225.1:p.Glu1329=
NM_007297.4:c.3844_3847delinsGAAA	NP_009228.2:p.Glu1282=
NM_007299.4:c.788-514_788-511delinsGAAA	NP_009230.2:n.788-514_788-511delinsGAAA
NM_007300.4:c.3985_3988delinsGAAA	NP_009231.2:p.Glu1329=
NR_027676.2:n.4162_4165delinsGAAA