Canonical Allele Identifier: CA2260775528

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076582_43076599delinsGGTATTCACTACTTTTCT , CM000679.2:g.43076582_43076599delinsGGTATTCACTACTTTTCT	GRCh38
NC_000017.10:g.41228599_41228616delinsGGTATTCACTACTTTTCT , CM000679.1:g.41228599_41228616delinsGGTATTCACTACTTTTCT	GRCh37
NC_000017.9:g.38482125_38482142delinsGGTATTCACTACTTTTCT	NCBI36
NG_005905.2:g.141385_141402delinsAGAAAAGTAGTGAATACC , LRG_292:g.141385_141402delinsAGAAAAGTAGTGAATACC

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4370_4387delinsAGAAAAGTAGTGAATACC	ENSP00000417241.2:p.Gln1457=
ENST00000470026.6:c.4373_4390delinsAGAAAAGTAGTGAATACC	ENSP00000419274.2:p.Gln1458=
ENST00000473961.6:c.4247_4264delinsAGAAAAGTAGTGAATACC	ENSP00000420201.2:p.Gln1416=
ENST00000476777.6:c.4367_4384delinsAGAAAAGTAGTGAATACC	ENSP00000417554.2:p.Gln1456=
ENST00000477152.6:c.4295_4312delinsAGAAAAGTAGTGAATACC	ENSP00000419988.2:p.Gln1432=
ENST00000478531.6:c.1061_1078delinsAGAAAAGTAGTGAATACC	ENSP00000420412.2:p.Gln354=
ENST00000489037.2:c.4295_4312delinsAGAAAAGTAGTGAATACC	ENSP00000420781.2:p.Gln1432=
ENST00000493919.6:c.923_940delinsAGAAAAGTAGTGAATACC	ENSP00000418819.2:p.Gln308=
ENST00000494123.6:c.4373_4390delinsAGAAAAGTAGTGAATACC	ENSP00000419103.2:p.Gln1458=
ENST00000497488.2:c.3485_3502delinsAGAAAAGTAGTGAATACC	ENSP00000418986.2:p.Gln1162=
ENST00000618469.2:c.4373_4390delinsAGAAAAGTAGTGAATACC	ENSP00000478114.2:p.Gln1458=
ENST00000634433.2:c.4250_4267delinsAGAAAAGTAGTGAATACC	ENSP00000489431.2:p.Gln1417=
ENST00000644379.2:c.4439_4456delinsAGAAAAGTAGTGAATACC	ENSP00000496570.2:p.Gln1480=
ENST00000644555.2:c.923_940delinsAGAAAAGTAGTGAATACC	ENSP00000494614.2:p.Gln308=
ENST00000652672.2:c.4232_4249delinsAGAAAAGTAGTGAATACC	ENSP00000498906.2:p.Gln1411=
ENST00000484087.6:c.935_952delinsAGAAAAGTAGTGAATACC	ENSP00000419481.2:p.Gln312=
ENST00000700182.1:c.980_997delinsAGAAAAGTAGTGAATACC	ENSP00000514849.1:p.Gln327=
ENST00000357654.9:c.4373_4390delinsAGAAAAGTAGTGAATACC MANE Select	ENSP00000350283.3:p.Gln1458=
ENST00000471181.7:c.4436_4453delinsAGAAAAGTAGTGAATACC	ENSP00000418960.2:p.Gln1479=
ENST00000644379.1:c.760_777delinsAGAAAAGTAGTGAATACC
ENST00000352993.7:c.947_964delinsAGAAAAGTAGTGAATACC	ENSP00000312236.5:p.Gln316=
ENST00000357654.7:c.4373_4390delinsAGAAAAGTAGTGAATACC	ENSP00000350283.3:p.Gln1458=
ENST00000461221.5:c.*4156_*4173delinsAGAAAAGTAGTGAATACC	ENSP00000418548.1:n.*4156_*4173delinsAGAA...
ENST00000461574.1:c.664_681delinsAGAAAAGTAGTGAATACC
ENST00000468300.5:c.1061_1078delinsAGAAAAGTAGTGAATACC	ENSP00000417148.1:p.Gln354=
ENST00000471181.6:c.4436_4453delinsAGAAAAGTAGTGAATACC	ENSP00000418960.2:p.Gln1479=
ENST00000478531.5:c.1061_1078delinsAGAAAAGTAGTGAATACC	ENSP00000420412.1:p.Gln354=
ENST00000484087.5:c.686_703delinsAGAAAAGTAGTGAATACC	ENSP00000419481.1:p.Gln229=
ENST00000487825.5:c.689_706delinsAGAAAAGTAGTGAATACC	ENSP00000418212.1:p.Gln230=
ENST00000491747.6:c.1061_1078delinsAGAAAAGTAGTGAATACC	ENSP00000420705.2:p.Gln354=
ENST00000493795.5:c.4232_4249delinsAGAAAAGTAGTGAATACC	ENSP00000418775.1:p.Gln1411=
ENST00000493919.5:c.923_940delinsAGAAAAGTAGTGAATACC	ENSP00000418819.1:p.Gln308=
ENST00000586385.5:c.5-12648_5-12631delinsAGAAAAGTAGTGAATACC	ENSP00000465818.1:n.5-12648_5-12631delins...
ENST00000591534.5:c.-43-2078_-43-2061delinsAGAAAAGTAGTGAATACC	ENSP00000467329.1:n.-43-2078_-43-2061deli...
ENST00000591849.5:c.-98-26409_-98-26392delinsAGAAAAGTAGTGAATACC	ENSP00000465347.1:n.-98-26409_-98-26392de...
ENST00000621897.1:n.264_281delinsAGAAAAGTAGTGAATACC
NM_007294.3:c.4373_4390delinsAGAAAAGTAGTGAATACC , LRG_292t1:c.4373_4390delinsAGAAAAGTAGTGAATACC	NP_009225.1:p.Gln1458=
NM_007297.3:c.4232_4249delinsAGAAAAGTAGTGAATACC	NP_009228.2:p.Gln1411=
NM_007298.3:c.1061_1078delinsAGAAAAGTAGTGAATACC	NP_009229.2:p.Gln354=
NM_007299.3:c.1061_1078delinsAGAAAAGTAGTGAATACC	NP_009230.2:p.Gln354=
NM_007300.3:c.4436_4453delinsAGAAAAGTAGTGAATACC	NP_009231.2:p.Gln1479=
NR_027676.1:n.4509_4526delinsAGAAAAGTAGTGAATACC
NM_007294.4:c.4373_4390delinsAGAAAAGTAGTGAATACC MANE Select	NP_009225.1:p.Gln1458=
NM_007297.4:c.4232_4249delinsAGAAAAGTAGTGAATACC	NP_009228.2:p.Gln1411=
NM_007299.4:c.1061_1078delinsAGAAAAGTAGTGAATACC	NP_009230.2:p.Gln354=
NM_007300.4:c.4436_4453delinsAGAAAAGTAGTGAATACC	NP_009231.2:p.Gln1479=
NR_027676.2:n.4550_4567delinsAGAAAAGTAGTGAATACC