Canonical Allele Identifier: CA2580611785

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092948_43092953dup , CM000679.2:g.43092948_43092953dup	GRCh38
NC_000017.10:g.41244965_41244970dup , CM000679.1:g.41244965_41244970dup	GRCh37
NC_000017.9:g.38498491_38498496dup	NCBI36
NG_005905.2:g.125032_125037dup , LRG_292:g.125032_125037dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2643_2648dup
ENST00000461574.2:c.2579_2584dup	ENSP00000417241.2:p.Phe861_Lys862insThrPhe
ENST00000470026.6:c.2579_2584dup	ENSP00000419274.2:p.Phe861_Lys862insThrPhe
ENST00000473961.6:c.2453_2458dup	ENSP00000420201.2:p.Phe819_Lys820insThrPhe
ENST00000476777.6:c.2576_2581dup	ENSP00000417554.2:p.Phe860_Lys861insThrPhe
ENST00000477152.6:c.2501_2506dup	ENSP00000419988.2:p.Phe835_Lys836insThrPhe
ENST00000478531.6:c.784+1792_784+1797dup	ENSP00000420412.2:n.784+1792_784+1797dup
ENST00000489037.2:c.2501_2506dup	ENSP00000420781.2:p.Phe835_Lys836insThrPhe
ENST00000493919.6:c.646+1792_646+1797dup	ENSP00000418819.2:n.646+1792_646+1797dup
ENST00000494123.6:c.2579_2584dup	ENSP00000419103.2:p.Phe861_Lys862insThrPhe
ENST00000497488.2:c.1691_1696dup	ENSP00000418986.2:p.Phe565_Lys566insThrPhe
ENST00000618469.2:c.2579_2584dup	ENSP00000478114.2:p.Phe861_Lys862insThrPhe
ENST00000634433.2:c.2456_2461dup	ENSP00000489431.2:p.Phe820_Lys821insThrPhe
ENST00000644379.2:c.2579_2584dup	ENSP00000496570.2:p.Phe861_Lys862insThrPhe
ENST00000644555.2:c.646+1792_646+1797dup	ENSP00000494614.2:n.646+1792_646+1797dup
ENST00000652672.2:c.2438_2443dup	ENSP00000498906.2:p.Phe814_Lys815insThrPhe
ENST00000484087.6:c.664+1792_664+1797dup	ENSP00000419481.2:n.664+1792_664+1797dup
ENST00000700182.1:c.706+1792_706+1797dup	ENSP00000514849.1:n.706+1792_706+1797dup
ENST00000357654.9:c.2579_2584dup MANE Select	ENSP00000350283.3:p.Phe861_Lys862insThrPhe
ENST00000471181.7:c.2579_2584dup	ENSP00000418960.2:p.Phe861_Lys862insThrPhe
ENST00000352993.7:c.671-1920_671-1915dup	ENSP00000312236.5:n.671-1920_671-1915dup
ENST00000354071.7:c.2579_2584dup	ENSP00000326002.7:p.Phe861_Lys862insThrPhe
ENST00000357654.7:c.2579_2584dup	ENSP00000350283.3:p.Phe861_Lys862insThrPhe
ENST00000461221.5:c.*2362_*2367dup	ENSP00000418548.1:n.*2362_*2367dup
ENST00000468300.5:c.787+1792_787+1797dup	ENSP00000417148.1:n.787+1792_787+1797dup
ENST00000471181.6:c.2579_2584dup	ENSP00000418960.2:p.Phe861_Lys862insThrPhe
ENST00000478531.5:c.784+1792_784+1797dup	ENSP00000420412.1:n.784+1792_784+1797dup
ENST00000484087.5:c.409+1792_409+1797dup	ENSP00000419481.1:n.409+1792_409+1797dup
ENST00000487825.5:c.412+1792_412+1797dup	ENSP00000418212.1:n.412+1792_412+1797dup
ENST00000491747.6:c.787+1792_787+1797dup	ENSP00000420705.2:n.787+1792_787+1797dup
ENST00000493795.5:c.2438_2443dup	ENSP00000418775.1:p.Phe814_Lys815insThrPhe
ENST00000493919.5:c.646+1792_646+1797dup	ENSP00000418819.1:n.646+1792_646+1797dup
ENST00000586385.5:c.5-29001_5-28996dup	ENSP00000465818.1:n.5-29001_5-28996dup
ENST00000591534.5:c.-43-18431_-43-18426dup	ENSP00000467329.1:n.-43-18431_-43-18426dup
ENST00000591849.5:c.-99+32319_-99+32324dup	ENSP00000465347.1:n.-99+32319_-99+32324dup
NM_007294.3:c.2579_2584dup , LRG_292t1:c.2579_2584dup	NP_009225.1:p.Phe861_Lys862insThrPhe
NM_007297.3:c.2438_2443dup	NP_009228.2:p.Phe814_Lys815insThrPhe
NM_007298.3:c.787+1792_787+1797dup	NP_009229.2:n.787+1792_787+1797dup
NM_007299.3:c.787+1792_787+1797dup	NP_009230.2:n.787+1792_787+1797dup
NM_007300.3:c.2579_2584dup	NP_009231.2:p.Phe861_Lys862insThrPhe
NR_027676.1:n.2715_2720dup
NM_007294.4:c.2579_2584dup MANE Select	NP_009225.1:p.Phe861_Lys862insThrPhe
NM_007297.4:c.2438_2443dup	NP_009228.2:p.Phe814_Lys815insThrPhe
NM_007299.4:c.787+1792_787+1797dup	NP_009230.2:n.787+1792_787+1797dup
NM_007300.4:c.2579_2584dup	NP_009231.2:p.Phe861_Lys862insThrPhe
NR_027676.2:n.2756_2761dup