Canonical Allele Identifier: CA2695225906

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43071038_43071041dup , CM000679.2:g.43071038_43071041dup	GRCh38
NC_000017.10:g.41223055_41223058dup , CM000679.1:g.41223055_41223058dup	GRCh37
NC_000017.9:g.38476581_38476584dup	NCBI36
NG_005905.2:g.146943_146946dup , LRG_292:g.146943_146946dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4870_4873dup	ENSP00000417241.2:p.Asn1625IlefsTer2
ENST00000470026.6:c.4873_4876dup	ENSP00000419274.2:p.Asn1626IlefsTer2
ENST00000473961.6:c.4747_4750dup	ENSP00000420201.2:p.Asn1584IlefsTer2
ENST00000476777.6:c.4867_4870dup	ENSP00000417554.2:p.Asn1624IlefsTer2
ENST00000477152.6:c.4795_4798dup	ENSP00000419988.2:p.Asn1600IlefsTer2
ENST00000478531.6:c.1561_1564dup	ENSP00000420412.2:p.Asn522IlefsTer2
ENST00000489037.2:c.4795_4798dup	ENSP00000420781.2:p.Asn1600IlefsTer2
ENST00000493919.6:c.1423_1426dup	ENSP00000418819.2:p.Asn476IlefsTer2
ENST00000494123.6:c.4873_4876dup	ENSP00000419103.2:p.Asn1626IlefsTer2
ENST00000497488.2:c.3985_3988dup	ENSP00000418986.2:p.Asn1330IlefsTer2
ENST00000618469.2:c.4873_4876dup	ENSP00000478114.2:p.Asn1626IlefsTer2
ENST00000634433.2:c.4750_4753dup	ENSP00000489431.2:p.Asn1585IlefsTer2
ENST00000644379.2:c.4939_4942dup	ENSP00000496570.2:p.Asn1648IlefsTer2
ENST00000644555.2:c.1423_1426dup	ENSP00000494614.2:p.Asn476IlefsTer2
ENST00000652672.2:c.4732_4735dup	ENSP00000498906.2:p.Asn1579IlefsTer2
ENST00000484087.6:c.1435_1438dup	ENSP00000419481.2:p.Asn480IlefsTer2
ENST00000700182.1:c.1480_1483dup	ENSP00000514849.1:p.Asn495IlefsTer2
ENST00000357654.9:c.4873_4876dup MANE Select	ENSP00000350283.3:p.Asn1626IlefsTer2
ENST00000471181.7:c.4936_4939dup	ENSP00000418960.2:p.Asn1647IlefsTer2
ENST00000644379.1:c.1260_1263dup
ENST00000352993.7:c.1447_1450dup	ENSP00000312236.5:p.Asn484IlefsTer2
ENST00000357654.7:c.4873_4876dup	ENSP00000350283.3:p.Asn1626IlefsTer2
ENST00000461221.5:c.*4656_*4659dup	ENSP00000418548.1:n.*4656_*4659dup
ENST00000468300.5:c.1561_1564dup	ENSP00000417148.1:p.Asn522IlefsTer2
ENST00000471181.6:c.4936_4939dup	ENSP00000418960.2:p.Asn1647IlefsTer2
ENST00000472490.1:n.26_29dup
ENST00000478531.5:c.1561_1564dup	ENSP00000420412.1:p.Asn522IlefsTer2
ENST00000484087.5:c.1186_1189dup	ENSP00000419481.1:p.Asn397IlefsTer2
ENST00000491747.6:c.1561_1564dup	ENSP00000420705.2:p.Asn522IlefsTer2
ENST00000493795.5:c.4732_4735dup	ENSP00000418775.1:p.Asn1579IlefsTer2
ENST00000493919.5:c.1423_1426dup	ENSP00000418819.1:p.Asn476IlefsTer2
ENST00000586385.5:c.5-7090_5-7087dup	ENSP00000465818.1:n.5-7090_5-7087dup
ENST00000591534.5:c.346_349dup	ENSP00000467329.1:p.Asn117IlefsTer2
ENST00000591849.5:c.-98-20851_-98-20848dup	ENSP00000465347.1:n.-98-20851_-98-20848dup
NM_007294.3:c.4873_4876dup , LRG_292t1:c.4873_4876dup	NP_009225.1:p.Asn1626IlefsTer2
NM_007297.3:c.4732_4735dup	NP_009228.2:p.Asn1579IlefsTer2
NM_007298.3:c.1561_1564dup	NP_009229.2:p.Asn522IlefsTer2
NM_007299.3:c.1561_1564dup	NP_009230.2:p.Asn522IlefsTer2
NM_007300.3:c.4936_4939dup	NP_009231.2:p.Asn1647IlefsTer2
NR_027676.1:n.5009_5012dup
NM_007294.4:c.4873_4876dup MANE Select	NP_009225.1:p.Asn1626IlefsTer2
NM_007297.4:c.4732_4735dup	NP_009228.2:p.Asn1579IlefsTer2
NM_007299.4:c.1561_1564dup	NP_009230.2:p.Asn522IlefsTer2
NM_007300.4:c.4936_4939dup	NP_009231.2:p.Asn1647IlefsTer2
NR_027676.2:n.5050_5053dup