Canonical Allele Identifier: CA1139770827

Gene: BRCA1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067650del , CM000679.2:g.43067650del	GRCh38
NC_000017.10:g.41219667del , CM000679.1:g.41219667del	GRCh37
NC_000017.9:g.38473193del	NCBI36
NG_005905.2:g.150335del , LRG_292:g.150335del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5030del	ENSP00000417241.2:p.Asn1677IlefsTer2
ENST00000470026.6:c.5033del	ENSP00000419274.2:p.Asn1678IlefsTer2
ENST00000473961.6:c.4907del	ENSP00000420201.2:p.Asn1636IlefsTer2
ENST00000476777.6:c.5027del	ENSP00000417554.2:p.Asn1676IlefsTer2
ENST00000477152.6:c.4955del	ENSP00000419988.2:p.Asn1652IlefsTer2
ENST00000478531.6:c.1721del	ENSP00000420412.2:p.Asn574IlefsTer2
ENST00000489037.2:c.4955del	ENSP00000420781.2:p.Asn1652IlefsTer2
ENST00000493919.6:c.1583del	ENSP00000418819.2:p.Asn528IlefsTer2
ENST00000494123.6:c.5033del	ENSP00000419103.2:p.Asn1678IlefsTer2
ENST00000497488.2:c.4145del	ENSP00000418986.2:p.Asn1382IlefsTer2
ENST00000618469.2:c.5033del	ENSP00000478114.2:p.Asn1678IlefsTer2
ENST00000634433.2:c.4910del	ENSP00000489431.2:p.Asn1637IlefsTer2
ENST00000644379.2:c.5099del	ENSP00000496570.2:p.Asn1700IlefsTer2
ENST00000644555.2:c.1583del	ENSP00000494614.2:p.Asn528IlefsTer2
ENST00000652672.2:c.4892del	ENSP00000498906.2:p.Asn1631IlefsTer2
ENST00000484087.6:c.1595del	ENSP00000419481.2:p.Asn532IlefsTer2
ENST00000357654.9:c.5033del MANE Select	ENSP00000350283.3:p.Asn1678IlefsTer2
ENST00000471181.7:c.5096del	ENSP00000418960.2:p.Asn1699IlefsTer2
ENST00000644379.1:c.1420del
ENST00000352993.7:c.1607del	ENSP00000312236.5:p.Asn536IlefsTer2
ENST00000357654.7:c.5033del	ENSP00000350283.3:p.Asn1678IlefsTer2
ENST00000461221.5:c.*4816del	ENSP00000418548.1:n.*4816del
ENST00000468300.5:c.1721del	ENSP00000417148.1:p.Asn574IlefsTer2
ENST00000471181.6:c.5096del	ENSP00000418960.2:p.Asn1699IlefsTer2
ENST00000472490.1:n.186del
ENST00000478531.5:c.1721del	ENSP00000420412.1:p.Asn574IlefsTer2
ENST00000484087.5:c.1346del	ENSP00000419481.1:p.Asn449IlefsTer2
ENST00000491747.6:c.1721del	ENSP00000420705.2:p.Asn574IlefsTer2
ENST00000493795.5:c.4892del	ENSP00000418775.1:p.Asn1631IlefsTer2
ENST00000493919.5:c.1583del	ENSP00000418819.1:p.Asn528IlefsTer2
ENST00000586385.5:c.5-3698del	ENSP00000465818.1:n.5-3698del
ENST00000591534.5:c.506del	ENSP00000467329.1:p.Asn169IlefsTer2
ENST00000591849.5:c.-98-17459del	ENSP00000465347.1:n.-98-17459del
NM_007294.3:c.5033del , LRG_292t1:c.5033del	NP_009225.1:p.Asn1678IlefsTer2
NM_007297.3:c.4892del	NP_009228.2:p.Asn1631IlefsTer2
NM_007298.3:c.1721del	NP_009229.2:p.Asn574IlefsTer2
NM_007299.3:c.1721del	NP_009230.2:p.Asn574IlefsTer2
NM_007300.3:c.5096del	NP_009231.2:p.Asn1699IlefsTer2
NR_027676.1:n.5169del
NM_007294.4:c.5033del MANE Select	NP_009225.1:p.Asn1678IlefsTer2
NM_007297.4:c.4892del	NP_009228.2:p.Asn1631IlefsTer2
NM_007299.4:c.1721del	NP_009230.2:p.Asn574IlefsTer2
NM_007300.4:c.5096del	NP_009231.2:p.Asn1699IlefsTer2
NR_027676.2:n.5210del