Canonical Allele Identifier: CA003168
Gene: BRCA1 HGNC NCBI
BRCA Exchange:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43067643del , CM000679.2:g.43067643del GRCh38
NC_000017.10:g.41219660del , CM000679.1:g.41219660del GRCh37
NC_000017.9:g.38473186del NCBI36
NG_005905.2:g.150342del , LRG_292:g.150342del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5037del ENSP00000417241.2:p.Thr1680LeufsTer9
ENST00000470026.6:c.5040del ENSP00000419274.2:p.Thr1681LeufsTer9
ENST00000473961.6:c.4914del ENSP00000420201.2:p.Thr1639LeufsTer9
ENST00000476777.6:c.5034del ENSP00000417554.2:p.Thr1679LeufsTer9
ENST00000477152.6:c.4962del ENSP00000419988.2:p.Thr1655LeufsTer9
ENST00000478531.6:c.1728del ENSP00000420412.2:p.Thr577LeufsTer9
ENST00000489037.2:c.4962del ENSP00000420781.2:p.Thr1655LeufsTer9
ENST00000493919.6:c.1590del ENSP00000418819.2:p.Thr531LeufsTer9
ENST00000494123.6:c.5040del ENSP00000419103.2:p.Thr1681LeufsTer9
ENST00000497488.2:c.4152del ENSP00000418986.2:p.Thr1385LeufsTer9
ENST00000618469.2:c.5040del ENSP00000478114.2:p.Thr1681LeufsTer9
ENST00000634433.2:c.4917del ENSP00000489431.2:p.Thr1640LeufsTer9
ENST00000644379.2:c.5106del ENSP00000496570.2:p.Thr1703LeufsTer9
ENST00000644555.2:c.1590del ENSP00000494614.2:p.Thr531LeufsTer9
ENST00000652672.2:c.4899del ENSP00000498906.2:p.Thr1634LeufsTer9
ENST00000484087.6:c.1602del ENSP00000419481.2:p.Thr535LeufsTer9
ENST00000357654.9:c.5040del MANE Select ENSP00000350283.3:p.Thr1681LeufsTer9
ENST00000471181.7:c.5103del ENSP00000418960.2:p.Thr1702LeufsTer9
ENST00000644379.1:c.1427del
ENST00000352993.7:c.1614del ENSP00000312236.5:p.Thr539LeufsTer9
ENST00000357654.7:c.5040del ENSP00000350283.3:p.Thr1681LeufsTer9
ENST00000461221.5:c.*4823del ENSP00000418548.1:n.*4823del
ENST00000468300.5:c.1728del ENSP00000417148.1:p.Thr577LeufsTer9
ENST00000471181.6:c.5103del ENSP00000418960.2:p.Thr1702LeufsTer9
ENST00000472490.1:n.193del
ENST00000478531.5:c.1728del ENSP00000420412.1:p.Thr577LeufsTer9
ENST00000484087.5:c.1353del ENSP00000419481.1:p.Thr452LeufsTer9
ENST00000491747.6:c.1728del ENSP00000420705.2:p.Thr577LeufsTer9
ENST00000493795.5:c.4899del ENSP00000418775.1:p.Thr1634LeufsTer9
ENST00000493919.5:c.1590del ENSP00000418819.1:p.Thr531LeufsTer9
ENST00000586385.5:c.5-3691del ENSP00000465818.1:n.5-3691del
ENST00000591534.5:c.513del ENSP00000467329.1:p.Thr172LeufsTer9
ENST00000591849.5:c.-98-17452del ENSP00000465347.1:n.-98-17452del
NM_007294.3:c.5040del , LRG_292t1:c.5040del NP_009225.1:p.Thr1681LeufsTer9
NM_007297.3:c.4899del NP_009228.2:p.Thr1634LeufsTer9
NM_007298.3:c.1728del NP_009229.2:p.Thr577LeufsTer9
NM_007299.3:c.1728del NP_009230.2:p.Thr577LeufsTer9
NM_007300.3:c.5103del NP_009231.2:p.Thr1702LeufsTer9
NR_027676.1:n.5176del
NM_007294.4:c.5040del MANE Select NP_009225.1:p.Thr1681LeufsTer9
NM_007297.4:c.4899del NP_009228.2:p.Thr1634LeufsTer9
NM_007299.4:c.1728del NP_009230.2:p.Thr577LeufsTer9
NM_007300.4:c.5103del NP_009231.2:p.Thr1702LeufsTer9
NR_027676.2:n.5217del