Canonical Allele Identifier: CA2260782140

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091660_43091662delinsATT , CM000679.2:g.43091660_43091662delinsATT	GRCh38
NC_000017.10:g.41243677_41243679delinsATT , CM000679.1:g.41243677_41243679delinsATT	GRCh37
NC_000017.9:g.38497203_38497205delinsATT	NCBI36
NG_005905.2:g.126322_126324delinsAAT , LRG_292:g.126322_126324delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3933_3935delinsAAT
ENST00000461574.2:c.3869_3871delinsAAT	ENSP00000417241.2:p.Lys1290=
ENST00000470026.6:c.3869_3871delinsAAT	ENSP00000419274.2:p.Lys1290=
ENST00000473961.6:c.3743_3745delinsAAT	ENSP00000420201.2:p.Lys1248=
ENST00000476777.6:c.3866_3868delinsAAT	ENSP00000417554.2:p.Lys1289=
ENST00000477152.6:c.3791_3793delinsAAT	ENSP00000419988.2:p.Lys1264=
ENST00000478531.6:c.785-630_785-628delinsAAT	ENSP00000420412.2:n.785-630_785-628delinsAAT
ENST00000489037.2:c.3791_3793delinsAAT	ENSP00000420781.2:p.Lys1264=
ENST00000493919.6:c.647-630_647-628delinsAAT	ENSP00000418819.2:n.647-630_647-628delinsAAT
ENST00000494123.6:c.3869_3871delinsAAT	ENSP00000419103.2:p.Lys1290=
ENST00000497488.2:c.2981_2983delinsAAT	ENSP00000418986.2:p.Lys994=
ENST00000618469.2:c.3869_3871delinsAAT	ENSP00000478114.2:p.Lys1290=
ENST00000634433.2:c.3746_3748delinsAAT	ENSP00000489431.2:p.Lys1249=
ENST00000644379.2:c.3869_3871delinsAAT	ENSP00000496570.2:p.Lys1290=
ENST00000644555.2:c.647-630_647-628delinsAAT	ENSP00000494614.2:n.647-630_647-628delinsAAT
ENST00000652672.2:c.3728_3730delinsAAT	ENSP00000498906.2:p.Lys1243=
ENST00000484087.6:c.665-630_665-628delinsAAT	ENSP00000419481.2:n.665-630_665-628delinsAAT
ENST00000700182.1:c.707-630_707-628delinsAAT	ENSP00000514849.1:n.707-630_707-628delinsAAT
ENST00000357654.9:c.3869_3871delinsAAT MANE Select	ENSP00000350283.3:p.Lys1290=
ENST00000471181.7:c.3869_3871delinsAAT	ENSP00000418960.2:p.Lys1290=
ENST00000644379.1:c.190_192delinsAAT
ENST00000352993.7:c.671-630_671-628delinsAAT	ENSP00000312236.5:n.671-630_671-628delinsAAT
ENST00000354071.7:c.3869_3871delinsAAT	ENSP00000326002.7:p.Lys1290=
ENST00000357654.7:c.3869_3871delinsAAT	ENSP00000350283.3:p.Lys1290=
ENST00000461221.5:c.*3652_*3654delinsAAT	ENSP00000418548.1:n.*3652_*3654delinsAAT
ENST00000461574.1:c.163_165delinsAAT
ENST00000468300.5:c.788-630_788-628delinsAAT	ENSP00000417148.1:n.788-630_788-628delinsAAT
ENST00000471181.6:c.3869_3871delinsAAT	ENSP00000418960.2:p.Lys1290=
ENST00000478531.5:c.785-630_785-628delinsAAT	ENSP00000420412.1:n.785-630_785-628delinsAAT
ENST00000484087.5:c.410-630_410-628delinsAAT	ENSP00000419481.1:n.410-630_410-628delinsAAT
ENST00000487825.5:c.413-630_413-628delinsAAT	ENSP00000418212.1:n.413-630_413-628delinsAAT
ENST00000491747.6:c.788-630_788-628delinsAAT	ENSP00000420705.2:n.788-630_788-628delinsAAT
ENST00000493795.5:c.3728_3730delinsAAT	ENSP00000418775.1:p.Lys1243=
ENST00000493919.5:c.647-630_647-628delinsAAT	ENSP00000418819.1:n.647-630_647-628delinsAAT
ENST00000586385.5:c.5-27711_5-27709delinsAAT	ENSP00000465818.1:n.5-27711_5-27709delinsAAT
ENST00000591534.5:c.-43-17141_-43-17139delinsAAT	ENSP00000467329.1:n.-43-17141_-43-17139delinsAAT
ENST00000591849.5:c.-99+33609_-99+33611delinsAAT	ENSP00000465347.1:n.-99+33609_-99+33611delinsAAT
NM_007294.3:c.3869_3871delinsAAT , LRG_292t1:c.3869_3871delinsAAT	NP_009225.1:p.Lys1290=
NM_007297.3:c.3728_3730delinsAAT	NP_009228.2:p.Lys1243=
NM_007298.3:c.788-630_788-628delinsAAT	NP_009229.2:n.788-630_788-628delinsAAT
NM_007299.3:c.788-630_788-628delinsAAT	NP_009230.2:n.788-630_788-628delinsAAT
NM_007300.3:c.3869_3871delinsAAT	NP_009231.2:p.Lys1290=
NR_027676.1:n.4005_4007delinsAAT
NM_007294.4:c.3869_3871delinsAAT MANE Select	NP_009225.1:p.Lys1290=
NM_007297.4:c.3728_3730delinsAAT	NP_009228.2:p.Lys1243=
NM_007299.4:c.788-630_788-628delinsAAT	NP_009230.2:n.788-630_788-628delinsAAT
NM_007300.4:c.3869_3871delinsAAT	NP_009231.2:p.Lys1290=
NR_027676.2:n.4046_4048delinsAAT