Canonical Allele Identifier: CA16616883
Gene: BRCA1 HGNC NCBI
BRCA Exchange:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43070942del , CM000679.2:g.43070942del GRCh38
NC_000017.10:g.41222959del , CM000679.1:g.41222959del GRCh37
NC_000017.9:g.38476485del NCBI36
NG_005905.2:g.147042del , LRG_292:g.147042del

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.4969del ENSP00000417241.2:p.Thr1657ProfsTer19
ENST00000470026.6:c.4972del ENSP00000419274.2:p.Thr1658ProfsTer19
ENST00000473961.6:c.4846del ENSP00000420201.2:p.Thr1616ProfsTer19
ENST00000476777.6:c.4966del ENSP00000417554.2:p.Thr1656ProfsTer19
ENST00000477152.6:c.4894del ENSP00000419988.2:p.Thr1632ProfsTer19
ENST00000478531.6:c.1660del ENSP00000420412.2:p.Thr554ProfsTer19
ENST00000489037.2:c.4894del ENSP00000420781.2:p.Thr1632ProfsTer19
ENST00000493919.6:c.1522del ENSP00000418819.2:p.Thr508ProfsTer19
ENST00000494123.6:c.4972del ENSP00000419103.2:p.Thr1658ProfsTer19
ENST00000497488.2:c.4084del ENSP00000418986.2:p.Thr1362ProfsTer19
ENST00000618469.2:c.4972del ENSP00000478114.2:p.Thr1658ProfsTer19
ENST00000634433.2:c.4849del ENSP00000489431.2:p.Thr1617ProfsTer19
ENST00000644379.2:c.5038del ENSP00000496570.2:p.Thr1680ProfsTer19
ENST00000644555.2:c.1522del ENSP00000494614.2:p.Thr508ProfsTer19
ENST00000652672.2:c.4831del ENSP00000498906.2:p.Thr1611ProfsTer19
ENST00000484087.6:c.1534del ENSP00000419481.2:p.Thr512ProfsTer19
ENST00000700182.1:c.1579del ENSP00000514849.1:p.Thr527ProfsTer6
ENST00000357654.9:c.4972del MANE Select ENSP00000350283.3:p.Thr1658ProfsTer19
ENST00000471181.7:c.5035del ENSP00000418960.2:p.Thr1679ProfsTer19
ENST00000644379.1:c.1359del
ENST00000352993.7:c.1546del ENSP00000312236.5:p.Thr516ProfsTer19
ENST00000357654.7:c.4972del ENSP00000350283.3:p.Thr1658ProfsTer19
ENST00000461221.5:c.*4755del ENSP00000418548.1:n.*4755del
ENST00000468300.5:c.1660del ENSP00000417148.1:p.Thr554ProfsTer19
ENST00000471181.6:c.5035del ENSP00000418960.2:p.Thr1679ProfsTer19
ENST00000472490.1:n.125del
ENST00000478531.5:c.1660del ENSP00000420412.1:p.Thr554ProfsTer19
ENST00000484087.5:c.1285del ENSP00000419481.1:p.Thr429ProfsTer19
ENST00000491747.6:c.1660del ENSP00000420705.2:p.Thr554ProfsTer19
ENST00000493795.5:c.4831del ENSP00000418775.1:p.Thr1611ProfsTer19
ENST00000493919.5:c.1522del ENSP00000418819.1:p.Thr508ProfsTer19
ENST00000586385.5:c.5-6991del ENSP00000465818.1:n.5-6991del
ENST00000591534.5:c.445del ENSP00000467329.1:p.Thr149ProfsTer19
ENST00000591849.5:c.-98-20752del ENSP00000465347.1:n.-98-20752del
NM_007294.3:c.4972del , LRG_292t1:c.4972del NP_009225.1:p.Thr1658ProfsTer19
NM_007297.3:c.4831del NP_009228.2:p.Thr1611ProfsTer19
NM_007298.3:c.1660del NP_009229.2:p.Thr554ProfsTer19
NM_007299.3:c.1660del NP_009230.2:p.Thr554ProfsTer19
NM_007300.3:c.5035del NP_009231.2:p.Thr1679ProfsTer19
NR_027676.1:n.5108del
NM_007294.4:c.4972del MANE Select NP_009225.1:p.Thr1658ProfsTer19
NM_007297.4:c.4831del NP_009228.2:p.Thr1611ProfsTer19
NM_007299.4:c.1660del NP_009230.2:p.Thr554ProfsTer19
NM_007300.4:c.5035del NP_009231.2:p.Thr1679ProfsTer19
NR_027676.2:n.5149del