Canonical Allele Identifier: CA2260783582

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093087_43093088delinsAT , CM000679.2:g.43093087_43093088delinsAT	GRCh38
NC_000017.10:g.41245104_41245105delinsAT , CM000679.1:g.41245104_41245105delinsAT	GRCh37
NC_000017.9:g.38498630_38498631delinsAT	NCBI36
NG_005905.2:g.124896_124897delinsAT , LRG_292:g.124896_124897delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.2507_2508delinsAT
ENST00000461574.2:c.2443_2444delinsAT	ENSP00000417241.2:p.Ile815=
ENST00000470026.6:c.2443_2444delinsAT	ENSP00000419274.2:p.Ile815=
ENST00000473961.6:c.2317_2318delinsAT	ENSP00000420201.2:p.Ile773=
ENST00000476777.6:c.2440_2441delinsAT	ENSP00000417554.2:p.Ile814=
ENST00000477152.6:c.2365_2366delinsAT	ENSP00000419988.2:p.Ile789=
ENST00000478531.6:c.784+1656_784+1657delinsAT	ENSP00000420412.2:n.784+1656_784+1657delinsAT
ENST00000489037.2:c.2365_2366delinsAT	ENSP00000420781.2:p.Ile789=
ENST00000493919.6:c.646+1656_646+1657delinsAT	ENSP00000418819.2:n.646+1656_646+1657delinsAT
ENST00000494123.6:c.2443_2444delinsAT	ENSP00000419103.2:p.Ile815=
ENST00000497488.2:c.1555_1556delinsAT	ENSP00000418986.2:p.Ile519=
ENST00000618469.2:c.2443_2444delinsAT	ENSP00000478114.2:p.Ile815=
ENST00000634433.2:c.2320_2321delinsAT	ENSP00000489431.2:p.Ile774=
ENST00000644379.2:c.2443_2444delinsAT	ENSP00000496570.2:p.Ile815=
ENST00000644555.2:c.646+1656_646+1657delinsAT	ENSP00000494614.2:n.646+1656_646+1657delinsAT
ENST00000652672.2:c.2302_2303delinsAT	ENSP00000498906.2:p.Ile768=
ENST00000484087.6:c.664+1656_664+1657delinsAT	ENSP00000419481.2:n.664+1656_664+1657delinsAT
ENST00000700182.1:c.706+1656_706+1657delinsAT	ENSP00000514849.1:n.706+1656_706+1657delinsAT
ENST00000357654.9:c.2443_2444delinsAT MANE Select	ENSP00000350283.3:p.Ile815=
ENST00000471181.7:c.2443_2444delinsAT	ENSP00000418960.2:p.Ile815=
ENST00000352993.7:c.671-2056_671-2055delinsAT	ENSP00000312236.5:n.671-2056_671-2055delinsAT
ENST00000354071.7:c.2443_2444delinsAT	ENSP00000326002.7:p.Ile815=
ENST00000357654.7:c.2443_2444delinsAT	ENSP00000350283.3:p.Ile815=
ENST00000461221.5:c.*2226_*2227delinsAT	ENSP00000418548.1:n.*2226_*2227delinsAT
ENST00000468300.5:c.787+1656_787+1657delinsAT	ENSP00000417148.1:n.787+1656_787+1657delinsAT
ENST00000471181.6:c.2443_2444delinsAT	ENSP00000418960.2:p.Ile815=
ENST00000478531.5:c.784+1656_784+1657delinsAT	ENSP00000420412.1:n.784+1656_784+1657delinsAT
ENST00000484087.5:c.409+1656_409+1657delinsAT	ENSP00000419481.1:n.409+1656_409+1657delinsAT
ENST00000487825.5:c.412+1656_412+1657delinsAT	ENSP00000418212.1:n.412+1656_412+1657delinsAT
ENST00000491747.6:c.787+1656_787+1657delinsAT	ENSP00000420705.2:n.787+1656_787+1657delinsAT
ENST00000493795.5:c.2302_2303delinsAT	ENSP00000418775.1:p.Ile768=
ENST00000493919.5:c.646+1656_646+1657delinsAT	ENSP00000418819.1:n.646+1656_646+1657delinsAT
ENST00000586385.5:c.5-29137_5-29136delinsAT	ENSP00000465818.1:n.5-29137_5-29136delinsAT
ENST00000591534.5:c.-43-18567_-43-18566delinsAT	ENSP00000467329.1:n.-43-18567_-43-18566delinsAT
ENST00000591849.5:c.-99+32183_-99+32184delinsAT	ENSP00000465347.1:n.-99+32183_-99+32184delinsAT
ENST00000634433.1:c.2320_2321delinsAT	ENSP00000489431.1:p.Ile774=
NM_007294.3:c.2443_2444delinsAT , LRG_292t1:c.2443_2444delinsAT	NP_009225.1:p.Ile815=
NM_007297.3:c.2302_2303delinsAT	NP_009228.2:p.Ile768=
NM_007298.3:c.787+1656_787+1657delinsAT	NP_009229.2:n.787+1656_787+1657delinsAT
NM_007299.3:c.787+1656_787+1657delinsAT	NP_009230.2:n.787+1656_787+1657delinsAT
NM_007300.3:c.2443_2444delinsAT	NP_009231.2:p.Ile815=
NR_027676.1:n.2579_2580delinsAT
NM_007294.4:c.2443_2444delinsAT MANE Select	NP_009225.1:p.Ile815=
NM_007297.4:c.2302_2303delinsAT	NP_009228.2:p.Ile768=
NM_007299.4:c.787+1656_787+1657delinsAT	NP_009230.2:n.787+1656_787+1657delinsAT
NM_007300.4:c.2443_2444delinsAT	NP_009231.2:p.Ile815=
NR_027676.2:n.2620_2621delinsAT