Canonical Allele Identifier: CA919844193

Gene: BRCA1

Linked Data

• dbSNP Id: rs1567774790

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071026_43071027insG , CM000679.2:g.43071026_43071027insG	GRCh38
NC_000017.10:g.41223043_41223044insG , CM000679.1:g.41223043_41223044insG	GRCh37
NC_000017.9:g.38476569_38476570insG	NCBI36
NG_005905.2:g.146957_146958insC , LRG_292:g.146957_146958insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4884_4885insC	ENSP00000417241.2:p.Glu1629ArgfsTer?
ENST00000470026.6:c.4887_4888insC	ENSP00000419274.2:p.Glu1630ArgfsTer?
ENST00000473961.6:c.4761_4762insC	ENSP00000420201.2:p.Glu1588ArgfsTer?
ENST00000476777.6:c.4881_4882insC	ENSP00000417554.2:p.Glu1628ArgfsTer?
ENST00000477152.6:c.4809_4810insC	ENSP00000419988.2:p.Glu1604ArgfsTer?
ENST00000478531.6:c.1575_1576insC	ENSP00000420412.2:p.Glu526ArgfsTer?
ENST00000489037.2:c.4809_4810insC	ENSP00000420781.2:p.Glu1604ArgfsTer?
ENST00000493919.6:c.1437_1438insC	ENSP00000418819.2:p.Glu480ArgfsTer?
ENST00000494123.6:c.4887_4888insC	ENSP00000419103.2:p.Glu1630ArgfsTer?
ENST00000497488.2:c.3999_4000insC	ENSP00000418986.2:p.Glu1334ArgfsTer?
ENST00000618469.2:c.4887_4888insC	ENSP00000478114.2:p.Glu1630ArgfsTer?
ENST00000634433.2:c.4764_4765insC	ENSP00000489431.2:p.Glu1589ArgfsTer?
ENST00000644379.2:c.4953_4954insC	ENSP00000496570.2:p.Glu1652ArgfsTer?
ENST00000644555.2:c.1437_1438insC	ENSP00000494614.2:p.Glu480ArgfsTer?
ENST00000652672.2:c.4746_4747insC	ENSP00000498906.2:p.Glu1583ArgfsTer?
ENST00000484087.6:c.1449_1450insC	ENSP00000419481.2:p.Glu484ArgfsTer?
ENST00000700182.1:c.1494_1495insC	ENSP00000514849.1:p.Glu499ArgfsTer?
ENST00000357654.9:c.4887_4888insC MANE Select	ENSP00000350283.3:p.Glu1630ArgfsTer?
ENST00000471181.7:c.4950_4951insC	ENSP00000418960.2:p.Glu1651ArgfsTer?
ENST00000644379.1:c.1274_1275insC
ENST00000352993.7:c.1461_1462insC	ENSP00000312236.5:p.Glu488ArgfsTer?
ENST00000357654.7:c.4887_4888insC	ENSP00000350283.3:p.Glu1630ArgfsTer?
ENST00000461221.5:c.*4670_*4671insC	ENSP00000418548.1:n.*4670_*4671insC
ENST00000468300.5:c.1575_1576insC	ENSP00000417148.1:p.Glu526ArgfsTer?
ENST00000471181.6:c.4950_4951insC	ENSP00000418960.2:p.Glu1651ArgfsTer?
ENST00000472490.1:n.40_41insC
ENST00000478531.5:c.1575_1576insC	ENSP00000420412.1:p.Glu526ArgfsTer?
ENST00000484087.5:c.1200_1201insC	ENSP00000419481.1:p.Glu401ArgfsTer?
ENST00000491747.6:c.1575_1576insC	ENSP00000420705.2:p.Glu526ArgfsTer?
ENST00000493795.5:c.4746_4747insC	ENSP00000418775.1:p.Glu1583ArgfsTer?
ENST00000493919.5:c.1437_1438insC	ENSP00000418819.1:p.Glu480ArgfsTer?
ENST00000586385.5:c.5-7076_5-7075insC	ENSP00000465818.1:n.5-7076_5-7075insC
ENST00000591534.5:c.360_361insC	ENSP00000467329.1:p.Glu121ArgfsTer?
ENST00000591849.5:c.-98-20837_-98-20836insC	ENSP00000465347.1:n.-98-20837_-98-20836insC
NM_007294.3:c.4887_4888insC , LRG_292t1:c.4887_4888insC	NP_009225.1:p.Glu1630ArgfsTer?
NM_007297.3:c.4746_4747insC	NP_009228.2:p.Glu1583ArgfsTer?
NM_007298.3:c.1575_1576insC	NP_009229.2:p.Glu526ArgfsTer?
NM_007299.3:c.1575_1576insC	NP_009230.2:p.Glu526ArgfsTer?
NM_007300.3:c.4950_4951insC	NP_009231.2:p.Glu1651ArgfsTer?
NR_027676.1:n.5023_5024insC
NM_007294.4:c.4887_4888insC MANE Select	NP_009225.1:p.Glu1630ArgfsTer?
NM_007297.4:c.4746_4747insC	NP_009228.2:p.Glu1583ArgfsTer?
NM_007299.4:c.1575_1576insC	NP_009230.2:p.Glu526ArgfsTer?
NM_007300.4:c.4950_4951insC	NP_009231.2:p.Glu1651ArgfsTer?
NR_027676.2:n.5064_5065insC