Canonical Allele Identifier: CA2260783260

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43092909_43092911delinsATT , CM000679.2:g.43092909_43092911delinsATT	GRCh38
NC_000017.10:g.41244926_41244928delinsATT , CM000679.1:g.41244926_41244928delinsATT	GRCh37
NC_000017.9:g.38498452_38498454delinsATT	NCBI36
NG_005905.2:g.125073_125075delinsAAT , LRG_292:g.125073_125075delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2684_2686delinsAAT
ENST00000461574.2:c.2620_2622delinsAAT	ENSP00000417241.2:p.Asn874=
ENST00000470026.6:c.2620_2622delinsAAT	ENSP00000419274.2:p.Asn874=
ENST00000473961.6:c.2494_2496delinsAAT	ENSP00000420201.2:p.Asn832=
ENST00000476777.6:c.2617_2619delinsAAT	ENSP00000417554.2:p.Asn873=
ENST00000477152.6:c.2542_2544delinsAAT	ENSP00000419988.2:p.Asn848=
ENST00000478531.6:c.784+1833_784+1835delinsAAT	ENSP00000420412.2:n.784+1833_784+1835delinsAAT
ENST00000489037.2:c.2542_2544delinsAAT	ENSP00000420781.2:p.Asn848=
ENST00000493919.6:c.646+1833_646+1835delinsAAT	ENSP00000418819.2:n.646+1833_646+1835delinsAAT
ENST00000494123.6:c.2620_2622delinsAAT	ENSP00000419103.2:p.Asn874=
ENST00000497488.2:c.1732_1734delinsAAT	ENSP00000418986.2:p.Asn578=
ENST00000618469.2:c.2620_2622delinsAAT	ENSP00000478114.2:p.Asn874=
ENST00000634433.2:c.2497_2499delinsAAT	ENSP00000489431.2:p.Asn833=
ENST00000644379.2:c.2620_2622delinsAAT	ENSP00000496570.2:p.Asn874=
ENST00000644555.2:c.646+1833_646+1835delinsAAT	ENSP00000494614.2:n.646+1833_646+1835delinsAAT
ENST00000652672.2:c.2479_2481delinsAAT	ENSP00000498906.2:p.Asn827=
ENST00000484087.6:c.664+1833_664+1835delinsAAT	ENSP00000419481.2:n.664+1833_664+1835delinsAAT
ENST00000700182.1:c.706+1833_706+1835delinsAAT	ENSP00000514849.1:n.706+1833_706+1835delinsAAT
ENST00000357654.9:c.2620_2622delinsAAT MANE Select	ENSP00000350283.3:p.Asn874=
ENST00000471181.7:c.2620_2622delinsAAT	ENSP00000418960.2:p.Asn874=
ENST00000352993.7:c.671-1879_671-1877delinsAAT	ENSP00000312236.5:n.671-1879_671-1877delinsAAT
ENST00000354071.7:c.2620_2622delinsAAT	ENSP00000326002.7:p.Asn874=
ENST00000357654.7:c.2620_2622delinsAAT	ENSP00000350283.3:p.Asn874=
ENST00000461221.5:c.*2403_*2405delinsAAT	ENSP00000418548.1:n.*2403_*2405delinsAAT
ENST00000468300.5:c.787+1833_787+1835delinsAAT	ENSP00000417148.1:n.787+1833_787+1835delinsAAT
ENST00000471181.6:c.2620_2622delinsAAT	ENSP00000418960.2:p.Asn874=
ENST00000478531.5:c.784+1833_784+1835delinsAAT	ENSP00000420412.1:n.784+1833_784+1835delinsAAT
ENST00000484087.5:c.409+1833_409+1835delinsAAT	ENSP00000419481.1:n.409+1833_409+1835delinsAAT
ENST00000487825.5:c.412+1833_412+1835delinsAAT	ENSP00000418212.1:n.412+1833_412+1835delinsAAT
ENST00000491747.6:c.787+1833_787+1835delinsAAT	ENSP00000420705.2:n.787+1833_787+1835delinsAAT
ENST00000493795.5:c.2479_2481delinsAAT	ENSP00000418775.1:p.Asn827=
ENST00000493919.5:c.646+1833_646+1835delinsAAT	ENSP00000418819.1:n.646+1833_646+1835delinsAAT
ENST00000586385.5:c.5-28960_5-28958delinsAAT	ENSP00000465818.1:n.5-28960_5-28958delinsAAT
ENST00000591534.5:c.-43-18390_-43-18388delinsAAT	ENSP00000467329.1:n.-43-18390_-43-18388delinsAAT
ENST00000591849.5:c.-99+32360_-99+32362delinsAAT	ENSP00000465347.1:n.-99+32360_-99+32362delinsAAT
NM_007294.3:c.2620_2622delinsAAT , LRG_292t1:c.2620_2622delinsAAT	NP_009225.1:p.Asn874=
NM_007297.3:c.2479_2481delinsAAT	NP_009228.2:p.Asn827=
NM_007298.3:c.787+1833_787+1835delinsAAT	NP_009229.2:n.787+1833_787+1835delinsAAT
NM_007299.3:c.787+1833_787+1835delinsAAT	NP_009230.2:n.787+1833_787+1835delinsAAT
NM_007300.3:c.2620_2622delinsAAT	NP_009231.2:p.Asn874=
NR_027676.1:n.2756_2758delinsAAT
NM_007294.4:c.2620_2622delinsAAT MANE Select	NP_009225.1:p.Asn874=
NM_007297.4:c.2479_2481delinsAAT	NP_009228.2:p.Asn827=
NM_007299.4:c.787+1833_787+1835delinsAAT	NP_009230.2:n.787+1833_787+1835delinsAAT
NM_007300.4:c.2620_2622delinsAAT	NP_009231.2:p.Asn874=
NR_027676.2:n.2797_2799delinsAAT