Canonical Allele Identifier: CA2260783288

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092666_43092670delinsTGATA , CM000679.2:g.43092666_43092670delinsTGATA	GRCh38
NC_000017.10:g.41244683_41244687delinsTGATA , CM000679.1:g.41244683_41244687delinsTGATA	GRCh37
NC_000017.9:g.38498209_38498213delinsTGATA	NCBI36
NG_005905.2:g.125314_125318delinsTATCA , LRG_292:g.125314_125318delinsTATCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2925_2929delinsTATCA
ENST00000461574.2:c.2861_2865delinsTATCA	ENSP00000417241.2:p.Leu954=
ENST00000470026.6:c.2861_2865delinsTATCA	ENSP00000419274.2:p.Leu954=
ENST00000473961.6:c.2735_2739delinsTATCA	ENSP00000420201.2:p.Leu912=
ENST00000476777.6:c.2858_2862delinsTATCA	ENSP00000417554.2:p.Leu953=
ENST00000477152.6:c.2783_2787delinsTATCA	ENSP00000419988.2:p.Leu928=
ENST00000478531.6:c.785-1638_785-1634delinsTATCA	ENSP00000420412.2:n.785-1638_785-1634deli...
ENST00000489037.2:c.2783_2787delinsTATCA	ENSP00000420781.2:p.Leu928=
ENST00000493919.6:c.647-1638_647-1634delinsTATCA	ENSP00000418819.2:n.647-1638_647-1634deli...
ENST00000494123.6:c.2861_2865delinsTATCA	ENSP00000419103.2:p.Leu954=
ENST00000497488.2:c.1973_1977delinsTATCA	ENSP00000418986.2:p.Leu658=
ENST00000618469.2:c.2861_2865delinsTATCA	ENSP00000478114.2:p.Leu954=
ENST00000634433.2:c.2738_2742delinsTATCA	ENSP00000489431.2:p.Leu913=
ENST00000644379.2:c.2861_2865delinsTATCA	ENSP00000496570.2:p.Leu954=
ENST00000644555.2:c.647-1638_647-1634delinsTATCA	ENSP00000494614.2:n.647-1638_647-1634deli...
ENST00000652672.2:c.2720_2724delinsTATCA	ENSP00000498906.2:p.Leu907=
ENST00000484087.6:c.665-1638_665-1634delinsTATCA	ENSP00000419481.2:n.665-1638_665-1634deli...
ENST00000700182.1:c.707-1638_707-1634delinsTATCA	ENSP00000514849.1:n.707-1638_707-1634deli...
ENST00000357654.9:c.2861_2865delinsTATCA MANE Select	ENSP00000350283.3:p.Leu954=
ENST00000471181.7:c.2861_2865delinsTATCA	ENSP00000418960.2:p.Leu954=
ENST00000352993.7:c.671-1638_671-1634delinsTATCA	ENSP00000312236.5:n.671-1638_671-1634deli...
ENST00000354071.7:c.2861_2865delinsTATCA	ENSP00000326002.7:p.Leu954=
ENST00000357654.7:c.2861_2865delinsTATCA	ENSP00000350283.3:p.Leu954=
ENST00000461221.5:c.*2644_*2648delinsTATCA	ENSP00000418548.1:n.*2644_*2648delinsTATC...
ENST00000468300.5:c.788-1638_788-1634delinsTATCA	ENSP00000417148.1:n.788-1638_788-1634deli...
ENST00000471181.6:c.2861_2865delinsTATCA	ENSP00000418960.2:p.Leu954=
ENST00000478531.5:c.785-1638_785-1634delinsTATCA	ENSP00000420412.1:n.785-1638_785-1634deli...
ENST00000484087.5:c.410-1638_410-1634delinsTATCA	ENSP00000419481.1:n.410-1638_410-1634deli...
ENST00000487825.5:c.413-1638_413-1634delinsTATCA	ENSP00000418212.1:n.413-1638_413-1634deli...
ENST00000491747.6:c.788-1638_788-1634delinsTATCA	ENSP00000420705.2:n.788-1638_788-1634deli...
ENST00000493795.5:c.2720_2724delinsTATCA	ENSP00000418775.1:p.Leu907=
ENST00000493919.5:c.647-1638_647-1634delinsTATCA	ENSP00000418819.1:n.647-1638_647-1634deli...
ENST00000586385.5:c.5-28719_5-28715delinsTATCA	ENSP00000465818.1:n.5-28719_5-28715delins...
ENST00000591534.5:c.-43-18149_-43-18145delinsTATCA	ENSP00000467329.1:n.-43-18149_-43-18145de...
ENST00000591849.5:c.-99+32601_-99+32605delinsTATCA	ENSP00000465347.1:n.-99+32601_-99+32605de...
NM_007294.3:c.2861_2865delinsTATCA , LRG_292t1:c.2861_2865delinsTATCA	NP_009225.1:p.Leu954=
NM_007297.3:c.2720_2724delinsTATCA	NP_009228.2:p.Leu907=
NM_007298.3:c.788-1638_788-1634delinsTATCA	NP_009229.2:n.788-1638_788-1634delinsTATC...
NM_007299.3:c.788-1638_788-1634delinsTATCA	NP_009230.2:n.788-1638_788-1634delinsTATC...
NM_007300.3:c.2861_2865delinsTATCA	NP_009231.2:p.Leu954=
NR_027676.1:n.2997_3001delinsTATCA
NM_007294.4:c.2861_2865delinsTATCA MANE Select	NP_009225.1:p.Leu954=
NM_007297.4:c.2720_2724delinsTATCA	NP_009228.2:p.Leu907=
NM_007299.4:c.788-1638_788-1634delinsTATCA	NP_009230.2:n.788-1638_788-1634delinsTATC...
NM_007300.4:c.2861_2865delinsTATCA	NP_009231.2:p.Leu954=
NR_027676.2:n.3038_3042delinsTATCA