Canonical Allele Identifier: CA2260782061

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091575_43091579delinsCCAAT , CM000679.2:g.43091575_43091579delinsCCAAT	GRCh38
NC_000017.10:g.41243592_41243596delinsCCAAT , CM000679.1:g.41243592_41243596delinsCCAAT	GRCh37
NC_000017.9:g.38497118_38497122delinsCCAAT	NCBI36
NG_005905.2:g.126405_126409delinsATTGG , LRG_292:g.126405_126409delinsATTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4016_4020delinsATTGG
ENST00000461574.2:c.3952_3956delinsATTGG	ENSP00000417241.2:p.Ile1318=
ENST00000470026.6:c.3952_3956delinsATTGG	ENSP00000419274.2:p.Ile1318=
ENST00000473961.6:c.3826_3830delinsATTGG	ENSP00000420201.2:p.Ile1276=
ENST00000476777.6:c.3949_3953delinsATTGG	ENSP00000417554.2:p.Ile1317=
ENST00000477152.6:c.3874_3878delinsATTGG	ENSP00000419988.2:p.Ile1292=
ENST00000478531.6:c.785-547_785-543delinsATTGG	ENSP00000420412.2:n.785-547_785-543delinsATTGG
ENST00000489037.2:c.3874_3878delinsATTGG	ENSP00000420781.2:p.Ile1292=
ENST00000493919.6:c.647-547_647-543delinsATTGG	ENSP00000418819.2:n.647-547_647-543delinsATTGG
ENST00000494123.6:c.3952_3956delinsATTGG	ENSP00000419103.2:p.Ile1318=
ENST00000497488.2:c.3064_3068delinsATTGG	ENSP00000418986.2:p.Ile1022=
ENST00000618469.2:c.3952_3956delinsATTGG	ENSP00000478114.2:p.Ile1318=
ENST00000634433.2:c.3829_3833delinsATTGG	ENSP00000489431.2:p.Ile1277=
ENST00000644379.2:c.3952_3956delinsATTGG	ENSP00000496570.2:p.Ile1318=
ENST00000644555.2:c.647-547_647-543delinsATTGG	ENSP00000494614.2:n.647-547_647-543delinsATTGG
ENST00000652672.2:c.3811_3815delinsATTGG	ENSP00000498906.2:p.Ile1271=
ENST00000484087.6:c.665-547_665-543delinsATTGG	ENSP00000419481.2:n.665-547_665-543delinsATTGG
ENST00000700182.1:c.707-547_707-543delinsATTGG	ENSP00000514849.1:n.707-547_707-543delinsATTGG
ENST00000357654.9:c.3952_3956delinsATTGG MANE Select	ENSP00000350283.3:p.Ile1318=
ENST00000471181.7:c.3952_3956delinsATTGG	ENSP00000418960.2:p.Ile1318=
ENST00000644379.1:c.273_277delinsATTGG
ENST00000352993.7:c.671-547_671-543delinsATTGG	ENSP00000312236.5:n.671-547_671-543delinsATTGG
ENST00000354071.7:c.3952_3956delinsATTGG	ENSP00000326002.7:p.Ile1318=
ENST00000357654.7:c.3952_3956delinsATTGG	ENSP00000350283.3:p.Ile1318=
ENST00000461221.5:c.*3735_*3739delinsATTGG	ENSP00000418548.1:n.*3735_*3739delinsATTGG
ENST00000461574.1:c.246_250delinsATTGG
ENST00000468300.5:c.788-547_788-543delinsATTGG	ENSP00000417148.1:n.788-547_788-543delinsATTGG
ENST00000471181.6:c.3952_3956delinsATTGG	ENSP00000418960.2:p.Ile1318=
ENST00000478531.5:c.785-547_785-543delinsATTGG	ENSP00000420412.1:n.785-547_785-543delinsATTGG
ENST00000484087.5:c.410-547_410-543delinsATTGG	ENSP00000419481.1:n.410-547_410-543delinsATTGG
ENST00000487825.5:c.413-547_413-543delinsATTGG	ENSP00000418212.1:n.413-547_413-543delinsATTGG
ENST00000491747.6:c.788-547_788-543delinsATTGG	ENSP00000420705.2:n.788-547_788-543delinsATTGG
ENST00000493795.5:c.3811_3815delinsATTGG	ENSP00000418775.1:p.Ile1271=
ENST00000493919.5:c.647-547_647-543delinsATTGG	ENSP00000418819.1:n.647-547_647-543delinsATTGG
ENST00000586385.5:c.5-27628_5-27624delinsATTGG	ENSP00000465818.1:n.5-27628_5-27624delinsATTGG
ENST00000591534.5:c.-43-17058_-43-17054delinsATTGG	ENSP00000467329.1:n.-43-17058_-43-17054delinsATTGG
ENST00000591849.5:c.-99+33692_-99+33696delinsATTGG	ENSP00000465347.1:n.-99+33692_-99+33696delinsATTGG
NM_007294.3:c.3952_3956delinsATTGG , LRG_292t1:c.3952_3956delinsATTGG	NP_009225.1:p.Ile1318=
NM_007297.3:c.3811_3815delinsATTGG	NP_009228.2:p.Ile1271=
NM_007298.3:c.788-547_788-543delinsATTGG	NP_009229.2:n.788-547_788-543delinsATTGG
NM_007299.3:c.788-547_788-543delinsATTGG	NP_009230.2:n.788-547_788-543delinsATTGG
NM_007300.3:c.3952_3956delinsATTGG	NP_009231.2:p.Ile1318=
NR_027676.1:n.4088_4092delinsATTGG
NM_007294.4:c.3952_3956delinsATTGG MANE Select	NP_009225.1:p.Ile1318=
NM_007297.4:c.3811_3815delinsATTGG	NP_009228.2:p.Ile1271=
NM_007299.4:c.788-547_788-543delinsATTGG	NP_009230.2:n.788-547_788-543delinsATTGG
NM_007300.4:c.3952_3956delinsATTGG	NP_009231.2:p.Ile1318=
NR_027676.2:n.4129_4133delinsATTGG