Canonical Allele Identifier: CA919844493

Gene: BRCA1

Linked Data

• dbSNP Id: rs1567789576

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091612_43091613insA , CM000679.2:g.43091612_43091613insA	GRCh38
NC_000017.10:g.41243629_41243630insA , CM000679.1:g.41243629_41243630insA	GRCh37
NC_000017.9:g.38497155_38497156insA	NCBI36
NG_005905.2:g.126371_126372insT , LRG_292:g.126371_126372insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.3982_3983insT
ENST00000461574.2:c.3918_3919insT	ENSP00000417241.2:p.Thr1307TyrfsTer23
ENST00000470026.6:c.3918_3919insT	ENSP00000419274.2:p.Thr1307TyrfsTer23
ENST00000473961.6:c.3792_3793insT	ENSP00000420201.2:p.Thr1265TyrfsTer23
ENST00000476777.6:c.3915_3916insT	ENSP00000417554.2:p.Thr1306TyrfsTer23
ENST00000477152.6:c.3840_3841insT	ENSP00000419988.2:p.Thr1281TyrfsTer23
ENST00000478531.6:c.785-581_785-580insT	ENSP00000420412.2:n.785-581_785-580insT
ENST00000489037.2:c.3840_3841insT	ENSP00000420781.2:p.Thr1281TyrfsTer23
ENST00000493919.6:c.647-581_647-580insT	ENSP00000418819.2:n.647-581_647-580insT
ENST00000494123.6:c.3918_3919insT	ENSP00000419103.2:p.Thr1307TyrfsTer23
ENST00000497488.2:c.3030_3031insT	ENSP00000418986.2:p.Thr1011TyrfsTer23
ENST00000618469.2:c.3918_3919insT	ENSP00000478114.2:p.Thr1307TyrfsTer23
ENST00000634433.2:c.3795_3796insT	ENSP00000489431.2:p.Thr1266TyrfsTer23
ENST00000644379.2:c.3918_3919insT	ENSP00000496570.2:p.Thr1307TyrfsTer23
ENST00000644555.2:c.647-581_647-580insT	ENSP00000494614.2:n.647-581_647-580insT
ENST00000652672.2:c.3777_3778insT	ENSP00000498906.2:p.Thr1260TyrfsTer23
ENST00000484087.6:c.665-581_665-580insT	ENSP00000419481.2:n.665-581_665-580insT
ENST00000700182.1:c.707-581_707-580insT	ENSP00000514849.1:n.707-581_707-580insT
ENST00000357654.9:c.3918_3919insT MANE Select	ENSP00000350283.3:p.Thr1307TyrfsTer23
ENST00000471181.7:c.3918_3919insT	ENSP00000418960.2:p.Thr1307TyrfsTer23
ENST00000644379.1:c.239_240insT
ENST00000352993.7:c.671-581_671-580insT	ENSP00000312236.5:n.671-581_671-580insT
ENST00000354071.7:c.3918_3919insT	ENSP00000326002.7:p.Thr1307TyrfsTer23
ENST00000357654.7:c.3918_3919insT	ENSP00000350283.3:p.Thr1307TyrfsTer23
ENST00000461221.5:c.*3701_*3702insT	ENSP00000418548.1:n.*3701_*3702insT
ENST00000461574.1:c.212_213insT
ENST00000468300.5:c.788-581_788-580insT	ENSP00000417148.1:n.788-581_788-580insT
ENST00000471181.6:c.3918_3919insT	ENSP00000418960.2:p.Thr1307TyrfsTer23
ENST00000478531.5:c.785-581_785-580insT	ENSP00000420412.1:n.785-581_785-580insT
ENST00000484087.5:c.410-581_410-580insT	ENSP00000419481.1:n.410-581_410-580insT
ENST00000487825.5:c.413-581_413-580insT	ENSP00000418212.1:n.413-581_413-580insT
ENST00000491747.6:c.788-581_788-580insT	ENSP00000420705.2:n.788-581_788-580insT
ENST00000493795.5:c.3777_3778insT	ENSP00000418775.1:p.Thr1260TyrfsTer23
ENST00000493919.5:c.647-581_647-580insT	ENSP00000418819.1:n.647-581_647-580insT
ENST00000586385.5:c.5-27662_5-27661insT	ENSP00000465818.1:n.5-27662_5-27661insT
ENST00000591534.5:c.-43-17092_-43-17091insT	ENSP00000467329.1:n.-43-17092_-43-17091in...
ENST00000591849.5:c.-99+33658_-99+33659insT	ENSP00000465347.1:n.-99+33658_-99+33659in...
NM_007294.3:c.3918_3919insT , LRG_292t1:c.3918_3919insT	NP_009225.1:p.Thr1307TyrfsTer23
NM_007297.3:c.3777_3778insT	NP_009228.2:p.Thr1260TyrfsTer23
NM_007298.3:c.788-581_788-580insT	NP_009229.2:n.788-581_788-580insT
NM_007299.3:c.788-581_788-580insT	NP_009230.2:n.788-581_788-580insT
NM_007300.3:c.3918_3919insT	NP_009231.2:p.Thr1307TyrfsTer23
NR_027676.1:n.4054_4055insT
NM_007294.4:c.3918_3919insT MANE Select	NP_009225.1:p.Thr1307TyrfsTer23
NM_007297.4:c.3777_3778insT	NP_009228.2:p.Thr1260TyrfsTer23
NM_007299.4:c.788-581_788-580insT	NP_009230.2:n.788-581_788-580insT
NM_007300.4:c.3918_3919insT	NP_009231.2:p.Thr1307TyrfsTer23
NR_027676.2:n.4095_4096insT