Canonical Allele Identifier: CA2260783660

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43093161_43093163delinsAGT , CM000679.2:g.43093161_43093163delinsAGT	GRCh38
NC_000017.10:g.41245178_41245180delinsAGT , CM000679.1:g.41245178_41245180delinsAGT	GRCh37
NC_000017.9:g.38498704_38498706delinsAGT	NCBI36
NG_005905.2:g.124821_124823delinsACT , LRG_292:g.124821_124823delinsACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.2432_2434delinsACT
ENST00000461574.2:c.2368_2370delinsACT	ENSP00000417241.2:p.Thr790=
ENST00000470026.6:c.2368_2370delinsACT	ENSP00000419274.2:p.Thr790=
ENST00000473961.6:c.2242_2244delinsACT	ENSP00000420201.2:p.Thr748=
ENST00000476777.6:c.2365_2367delinsACT	ENSP00000417554.2:p.Thr789=
ENST00000477152.6:c.2290_2292delinsACT	ENSP00000419988.2:p.Thr764=
ENST00000478531.6:c.784+1581_784+1583delinsACT	ENSP00000420412.2:n.784+1581_784+1583deli...
ENST00000489037.2:c.2290_2292delinsACT	ENSP00000420781.2:p.Thr764=
ENST00000493919.6:c.646+1581_646+1583delinsACT	ENSP00000418819.2:n.646+1581_646+1583deli...
ENST00000494123.6:c.2368_2370delinsACT	ENSP00000419103.2:p.Thr790=
ENST00000497488.2:c.1480_1482delinsACT	ENSP00000418986.2:p.Thr494=
ENST00000618469.2:c.2368_2370delinsACT	ENSP00000478114.2:p.Thr790=
ENST00000634433.2:c.2245_2247delinsACT	ENSP00000489431.2:p.Thr749=
ENST00000644379.2:c.2368_2370delinsACT	ENSP00000496570.2:p.Thr790=
ENST00000644555.2:c.646+1581_646+1583delinsACT	ENSP00000494614.2:n.646+1581_646+1583deli...
ENST00000652672.2:c.2227_2229delinsACT	ENSP00000498906.2:p.Thr743=
ENST00000484087.6:c.664+1581_664+1583delinsACT	ENSP00000419481.2:n.664+1581_664+1583deli...
ENST00000700182.1:c.706+1581_706+1583delinsACT	ENSP00000514849.1:n.706+1581_706+1583deli...
ENST00000357654.9:c.2368_2370delinsACT MANE Select	ENSP00000350283.3:p.Thr790=
ENST00000471181.7:c.2368_2370delinsACT	ENSP00000418960.2:p.Thr790=
ENST00000352993.7:c.671-2131_671-2129delinsACT	ENSP00000312236.5:n.671-2131_671-2129deli...
ENST00000354071.7:c.2368_2370delinsACT	ENSP00000326002.7:p.Thr790=
ENST00000357654.7:c.2368_2370delinsACT	ENSP00000350283.3:p.Thr790=
ENST00000461221.5:c.*2151_*2153delinsACT	ENSP00000418548.1:n.*2151_*2153delinsACT
ENST00000468300.5:c.787+1581_787+1583delinsACT	ENSP00000417148.1:n.787+1581_787+1583deli...
ENST00000471181.6:c.2368_2370delinsACT	ENSP00000418960.2:p.Thr790=
ENST00000478531.5:c.784+1581_784+1583delinsACT	ENSP00000420412.1:n.784+1581_784+1583deli...
ENST00000484087.5:c.409+1581_409+1583delinsACT	ENSP00000419481.1:n.409+1581_409+1583deli...
ENST00000487825.5:c.412+1581_412+1583delinsACT	ENSP00000418212.1:n.412+1581_412+1583deli...
ENST00000491747.6:c.787+1581_787+1583delinsACT	ENSP00000420705.2:n.787+1581_787+1583deli...
ENST00000493795.5:c.2227_2229delinsACT	ENSP00000418775.1:p.Thr743=
ENST00000493919.5:c.646+1581_646+1583delinsACT	ENSP00000418819.1:n.646+1581_646+1583deli...
ENST00000586385.5:c.5-29212_5-29210delinsACT	ENSP00000465818.1:n.5-29212_5-29210delins...
ENST00000591534.5:c.-43-18642_-43-18640delinsACT	ENSP00000467329.1:n.-43-18642_-43-18640de...
ENST00000591849.5:c.-99+32108_-99+32110delinsACT	ENSP00000465347.1:n.-99+32108_-99+32110de...
ENST00000634433.1:c.2245_2247delinsACT	ENSP00000489431.1:p.Thr749=
NM_007294.3:c.2368_2370delinsACT , LRG_292t1:c.2368_2370delinsACT	NP_009225.1:p.Thr790=
NM_007297.3:c.2227_2229delinsACT	NP_009228.2:p.Thr743=
NM_007298.3:c.787+1581_787+1583delinsACT	NP_009229.2:n.787+1581_787+1583delinsACT
NM_007299.3:c.787+1581_787+1583delinsACT	NP_009230.2:n.787+1581_787+1583delinsACT
NM_007300.3:c.2368_2370delinsACT	NP_009231.2:p.Thr790=
NR_027676.1:n.2504_2506delinsACT
NM_007294.4:c.2368_2370delinsACT MANE Select	NP_009225.1:p.Thr790=
NM_007297.4:c.2227_2229delinsACT	NP_009228.2:p.Thr743=
NM_007299.4:c.787+1581_787+1583delinsACT	NP_009230.2:n.787+1581_787+1583delinsACT
NM_007300.4:c.2368_2370delinsACT	NP_009231.2:p.Thr790=
NR_027676.2:n.2545_2547delinsACT