Canonical Allele Identifier: CA2260785233

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094736_43094740delinsAGAAC , CM000679.2:g.43094736_43094740delinsAGAAC	GRCh38
NC_000017.10:g.41246753_41246757delinsAGAAC , CM000679.1:g.41246753_41246757delinsAGAAC	GRCh37
NC_000017.9:g.38500279_38500283delinsAGAAC	NCBI36
NG_005905.2:g.123244_123248delinsGTTCT , LRG_292:g.123244_123248delinsGTTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.855_859delinsGTTCT
ENST00000461574.2:c.791_795delinsGTTCT	ENSP00000417241.2:p.Ser264=
ENST00000470026.6:c.791_795delinsGTTCT	ENSP00000419274.2:p.Ser264=
ENST00000473961.6:c.665_669delinsGTTCT	ENSP00000420201.2:p.Ser222=
ENST00000476777.6:c.788_792delinsGTTCT	ENSP00000417554.2:p.Ser263=
ENST00000477152.6:c.713_717delinsGTTCT	ENSP00000419988.2:p.Ser238=
ENST00000478531.6:c.784+4_784+8delinsGTTCT	ENSP00000420412.2:n.784+4_784+8delinsGTTCT
ENST00000489037.2:c.713_717delinsGTTCT	ENSP00000420781.2:p.Ser238=
ENST00000493919.6:c.646+4_646+8delinsGTTCT	ENSP00000418819.2:n.646+4_646+8delinsGTTCT
ENST00000494123.6:c.791_795delinsGTTCT	ENSP00000419103.2:p.Ser264=
ENST00000497488.2:c.-98_-94delinsGTTCT	ENSP00000418986.2:n.-98_-94delinsGTTCT
ENST00000618469.2:c.791_795delinsGTTCT	ENSP00000478114.2:p.Ser264=
ENST00000634433.2:c.668_672delinsGTTCT	ENSP00000489431.2:p.Ser223=
ENST00000644379.2:c.791_795delinsGTTCT	ENSP00000496570.2:p.Ser264=
ENST00000644555.2:c.646+4_646+8delinsGTTCT	ENSP00000494614.2:n.646+4_646+8delinsGTTCT
ENST00000652672.2:c.650_654delinsGTTCT	ENSP00000498906.2:p.Ser217=
ENST00000484087.6:c.664+4_664+8delinsGTTCT	ENSP00000419481.2:n.664+4_664+8delinsGTTCT
ENST00000700182.1:c.706+4_706+8delinsGTTCT	ENSP00000514849.1:n.706+4_706+8delinsGTTCT
ENST00000700183.1:c.*799_*803delinsGTTCT	ENSP00000514850.1:n.*799_*803delinsGTTCT
ENST00000357654.9:c.791_795delinsGTTCT MANE Select	ENSP00000350283.3:p.Ser264=
ENST00000471181.7:c.791_795delinsGTTCT	ENSP00000418960.2:p.Ser264=
ENST00000642945.1:c.*665_*669delinsGTTCT	ENSP00000495897.1:n.*665_*669delinsGTTCT
ENST00000652672.1:c.650_654delinsGTTCT	ENSP00000498906.1:p.Ser217=
ENST00000352993.7:c.670+1106_670+1110delinsGTTCT	ENSP00000312236.5:n.670+1106_670+1110delinsGTTCT
ENST00000354071.7:c.791_795delinsGTTCT	ENSP00000326002.7:p.Ser264=
ENST00000357654.7:c.791_795delinsGTTCT	ENSP00000350283.3:p.Ser264=
ENST00000412061.3:c.142_146delinsGTTCT
ENST00000461221.5:c.*574_*578delinsGTTCT	ENSP00000418548.1:n.*574_*578delinsGTTCT
ENST00000468300.5:c.787+4_787+8delinsGTTCT	ENSP00000417148.1:n.787+4_787+8delinsGTTCT
ENST00000470026.5:c.791_795delinsGTTCT	ENSP00000419274.1:p.Ser264=
ENST00000471181.6:c.791_795delinsGTTCT	ENSP00000418960.2:p.Ser264=
ENST00000473961.5:c.388_392delinsGTTCT
ENST00000477152.5:c.713_717delinsGTTCT	ENSP00000419988.1:p.Ser238=
ENST00000478531.5:c.784+4_784+8delinsGTTCT	ENSP00000420412.1:n.784+4_784+8delinsGTTCT
ENST00000484087.5:c.409+4_409+8delinsGTTCT	ENSP00000419481.1:n.409+4_409+8delinsGTTCT
ENST00000487825.5:c.412+4_412+8delinsGTTCT	ENSP00000418212.1:n.412+4_412+8delinsGTTCT
ENST00000491747.6:c.787+4_787+8delinsGTTCT	ENSP00000420705.2:n.787+4_787+8delinsGTTCT
ENST00000492859.5:c.*727_*731delinsGTTCT	ENSP00000420253.1:n.*727_*731delinsGTTCT
ENST00000493795.5:c.650_654delinsGTTCT	ENSP00000418775.1:p.Ser217=
ENST00000493919.5:c.646+4_646+8delinsGTTCT	ENSP00000418819.1:n.646+4_646+8delinsGTTCT
ENST00000494123.5:c.791_795delinsGTTCT	ENSP00000419103.1:p.Ser264=
ENST00000497488.1:c.-98_-94delinsGTTCT	ENSP00000418986.1:n.-98_-94delinsGTTCT
ENST00000586385.5:c.4+30442_4+30446delinsGTTCT	ENSP00000465818.1:n.4+30442_4+30446delinsGTTCT
ENST00000591534.5:c.-43-20219_-43-20215delinsGTTCT	ENSP00000467329.1:n.-43-20219_-43-20215delinsGTTCT
ENST00000591849.5:c.-99+30531_-99+30535delinsGTTCT	ENSP00000465347.1:n.-99+30531_-99+30535delinsGTTCT
ENST00000634433.1:c.668_672delinsGTTCT	ENSP00000489431.1:p.Ser223=
NM_007294.3:c.791_795delinsGTTCT , LRG_292t1:c.791_795delinsGTTCT	NP_009225.1:p.Ser264=
NM_007297.3:c.650_654delinsGTTCT	NP_009228.2:p.Ser217=
NM_007298.3:c.787+4_787+8delinsGTTCT	NP_009229.2:n.787+4_787+8delinsGTTCT
NM_007299.3:c.787+4_787+8delinsGTTCT	NP_009230.2:n.787+4_787+8delinsGTTCT
NM_007300.3:c.791_795delinsGTTCT	NP_009231.2:p.Ser264=
NR_027676.1:n.927_931delinsGTTCT
NM_007294.4:c.791_795delinsGTTCT MANE Select	NP_009225.1:p.Ser264=
NM_007297.4:c.650_654delinsGTTCT	NP_009228.2:p.Ser217=
NM_007299.4:c.787+4_787+8delinsGTTCT	NP_009230.2:n.787+4_787+8delinsGTTCT
NM_007300.4:c.791_795delinsGTTCT	NP_009231.2:p.Ser264=
NR_027676.2:n.968_972delinsGTTCT