Canonical Allele Identifier: CA2260782412

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091906_43091907delinsAT , CM000679.2:g.43091906_43091907delinsAT	GRCh38
NC_000017.10:g.41243923_41243924delinsAT , CM000679.1:g.41243923_41243924delinsAT	GRCh37
NC_000017.9:g.38497449_38497450delinsAT	NCBI36
NG_005905.2:g.126077_126078delinsAT , LRG_292:g.126077_126078delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3688_3689delinsAT
ENST00000461574.2:c.3624_3625delinsAT	ENSP00000417241.2:p.Lys1208=
ENST00000470026.6:c.3624_3625delinsAT	ENSP00000419274.2:p.Lys1208=
ENST00000473961.6:c.3498_3499delinsAT	ENSP00000420201.2:p.Lys1166=
ENST00000476777.6:c.3621_3622delinsAT	ENSP00000417554.2:p.Lys1207=
ENST00000477152.6:c.3546_3547delinsAT	ENSP00000419988.2:p.Lys1182=
ENST00000478531.6:c.785-875_785-874delinsAT	ENSP00000420412.2:n.785-875_785-874delinsAT
ENST00000489037.2:c.3546_3547delinsAT	ENSP00000420781.2:p.Lys1182=
ENST00000493919.6:c.647-875_647-874delinsAT	ENSP00000418819.2:n.647-875_647-874delinsAT
ENST00000494123.6:c.3624_3625delinsAT	ENSP00000419103.2:p.Lys1208=
ENST00000497488.2:c.2736_2737delinsAT	ENSP00000418986.2:p.Lys912=
ENST00000618469.2:c.3624_3625delinsAT	ENSP00000478114.2:p.Lys1208=
ENST00000634433.2:c.3501_3502delinsAT	ENSP00000489431.2:p.Lys1167=
ENST00000644379.2:c.3624_3625delinsAT	ENSP00000496570.2:p.Lys1208=
ENST00000644555.2:c.647-875_647-874delinsAT	ENSP00000494614.2:n.647-875_647-874delinsAT
ENST00000652672.2:c.3483_3484delinsAT	ENSP00000498906.2:p.Lys1161=
ENST00000484087.6:c.665-875_665-874delinsAT	ENSP00000419481.2:n.665-875_665-874delinsAT
ENST00000700182.1:c.707-875_707-874delinsAT	ENSP00000514849.1:n.707-875_707-874delinsAT
ENST00000357654.9:c.3624_3625delinsAT MANE Select	ENSP00000350283.3:p.Lys1208=
ENST00000471181.7:c.3624_3625delinsAT	ENSP00000418960.2:p.Lys1208=
ENST00000352993.7:c.671-875_671-874delinsAT	ENSP00000312236.5:n.671-875_671-874delinsAT
ENST00000354071.7:c.3624_3625delinsAT	ENSP00000326002.7:p.Lys1208=
ENST00000357654.7:c.3624_3625delinsAT	ENSP00000350283.3:p.Lys1208=
ENST00000461221.5:c.*3407_*3408delinsAT	ENSP00000418548.1:n.*3407_*3408delinsAT
ENST00000468300.5:c.788-875_788-874delinsAT	ENSP00000417148.1:n.788-875_788-874delinsAT
ENST00000471181.6:c.3624_3625delinsAT	ENSP00000418960.2:p.Lys1208=
ENST00000478531.5:c.785-875_785-874delinsAT	ENSP00000420412.1:n.785-875_785-874delinsAT
ENST00000484087.5:c.410-875_410-874delinsAT	ENSP00000419481.1:n.410-875_410-874delinsAT
ENST00000487825.5:c.413-875_413-874delinsAT	ENSP00000418212.1:n.413-875_413-874delinsAT
ENST00000491747.6:c.788-875_788-874delinsAT	ENSP00000420705.2:n.788-875_788-874delinsAT
ENST00000493795.5:c.3483_3484delinsAT	ENSP00000418775.1:p.Lys1161=
ENST00000493919.5:c.647-875_647-874delinsAT	ENSP00000418819.1:n.647-875_647-874delinsAT
ENST00000586385.5:c.5-27956_5-27955delinsAT	ENSP00000465818.1:n.5-27956_5-27955delinsAT
ENST00000591534.5:c.-43-17386_-43-17385delinsAT	ENSP00000467329.1:n.-43-17386_-43-17385delinsAT
ENST00000591849.5:c.-99+33364_-99+33365delinsAT	ENSP00000465347.1:n.-99+33364_-99+33365delinsAT
NM_007294.3:c.3624_3625delinsAT , LRG_292t1:c.3624_3625delinsAT	NP_009225.1:p.Lys1208=
NM_007297.3:c.3483_3484delinsAT	NP_009228.2:p.Lys1161=
NM_007298.3:c.788-875_788-874delinsAT	NP_009229.2:n.788-875_788-874delinsAT
NM_007299.3:c.788-875_788-874delinsAT	NP_009230.2:n.788-875_788-874delinsAT
NM_007300.3:c.3624_3625delinsAT	NP_009231.2:p.Lys1208=
NR_027676.1:n.3760_3761delinsAT
NM_007294.4:c.3624_3625delinsAT MANE Select	NP_009225.1:p.Lys1208=
NM_007297.4:c.3483_3484delinsAT	NP_009228.2:p.Lys1161=
NM_007299.4:c.788-875_788-874delinsAT	NP_009230.2:n.788-875_788-874delinsAT
NM_007300.4:c.3624_3625delinsAT	NP_009231.2:p.Lys1208=
NR_027676.2:n.3801_3802delinsAT