Canonical Allele Identifier: CA002085
Community Standard Title: NM_007294.4(BRCA1):c.321del (p.Phe107LeufsTer12)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43104245del , CM000679.2:g.43104245del GRCh38
NC_000017.10:g.41256262del , CM000679.1:g.41256262del GRCh37
NC_000017.9:g.38509788del NCBI36
NG_005905.2:g.113742del , LRG_292:g.113742del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.321del MANE Select NP_009225.1:p.Phe107LeufsTer12
ENST00000357654.9:c.321del MANE Select ENSP00000350283.3:p.Phe107LeufsTer12
NM_007294.3:c.321del , LRG_292t1:c.321del NP_009225.1:p.Phe107LeufsTer12
NM_007297.3:c.180del NP_009228.2:p.Phe60LeufsTer12
NM_007297.4:c.180del NP_009228.2:p.Phe60LeufsTer12
NM_007298.3:c.321del NP_009229.2:p.Phe107LeufsTer12
NM_007299.3:c.321del NP_009230.2:p.Phe107LeufsTer12
NM_007299.4:c.321del NP_009230.2:p.Phe107LeufsTer12
NM_007300.3:c.321del NP_009231.2:p.Phe107LeufsTer12
NM_007300.4:c.321del NP_009231.2:p.Phe107LeufsTer12
NR_027676.1:n.460del
NR_027676.2:n.501del
ENST00000352993.7:c.321del ENSP00000312236.5:p.Phe107LeufsTer12
ENST00000354071.7:c.321del ENSP00000326002.7:p.Phe107LeufsTer12
ENST00000354071.8:n.385del
ENST00000357654.7:c.321del ENSP00000350283.3:p.Phe107LeufsTer12
ENST00000461221.5:c.*107del ENSP00000418548.1:n.*107del
ENST00000461574.2:c.321del ENSP00000417241.2:p.Phe107LeufsTer12
ENST00000461798.5:c.*107del ENSP00000417988.1:n.*107del
ENST00000468300.5:c.321del ENSP00000417148.1:p.Phe107LeufsTer12
ENST00000470026.5:c.321del ENSP00000419274.1:p.Phe107LeufsTer12
ENST00000470026.6:c.321del ENSP00000419274.2:p.Phe107LeufsTer12
ENST00000471181.6:c.321del ENSP00000418960.2:p.Phe107LeufsTer12
ENST00000471181.7:c.321del ENSP00000418960.2:p.Phe107LeufsTer12
ENST00000473961.5:c.44del
ENST00000473961.6:c.321del ENSP00000420201.2:p.Phe107LeufsTer12
ENST00000476777.5:c.321del ENSP00000417554.1:p.Phe107LeufsTer12
ENST00000476777.6:c.321del ENSP00000417554.2:p.Phe107LeufsTer12
ENST00000477152.5:c.243del ENSP00000419988.1:p.Phe81LeufsTer12
ENST00000477152.6:c.243del ENSP00000419988.2:p.Phe81LeufsTer12
ENST00000478531.5:c.321del ENSP00000420412.1:p.Phe107LeufsTer12
ENST00000478531.6:c.321del ENSP00000420412.2:p.Phe107LeufsTer12
ENST00000484087.5:c.69del ENSP00000419481.1:p.Phe23LeufsTer12
ENST00000484087.6:c.321del ENSP00000419481.2:p.Phe107LeufsTer12
ENST00000487825.5:c.69del ENSP00000418212.1:p.Phe23LeufsTer12
ENST00000489037.1:c.243del ENSP00000420781.1:p.Phe81LeufsTer12
ENST00000489037.2:c.243del ENSP00000420781.2:p.Phe81LeufsTer12
ENST00000491747.6:c.321del ENSP00000420705.2:p.Phe107LeufsTer12
ENST00000492859.5:c.*257del ENSP00000420253.1:n.*257del
ENST00000493795.5:c.180del ENSP00000418775.1:p.Phe60LeufsTer12
ENST00000493919.5:c.180del ENSP00000418819.1:p.Phe60LeufsTer12
ENST00000493919.6:c.180del ENSP00000418819.2:p.Phe60LeufsTer12
ENST00000494123.5:c.321del ENSP00000419103.1:p.Phe107LeufsTer12
ENST00000494123.6:c.321del ENSP00000419103.2:p.Phe107LeufsTer12
ENST00000497488.1:c.-218-9382del ENSP00000418986.1:n.-218-9382del
ENST00000497488.2:c.-218-9382del ENSP00000418986.2:n.-218-9382del
ENST00000586385.5:c.4+20940del ENSP00000465818.1:n.4+20940del
ENST00000591534.5:c.-44+21029del ENSP00000467329.1:n.-44+21029del
ENST00000591849.5:c.-99+21029del ENSP00000465347.1:n.-99+21029del
ENST00000618469.2:c.321del ENSP00000478114.2:p.Phe107LeufsTer12
ENST00000634433.1:c.321del ENSP00000489431.1:p.Phe107LeufsTer12
ENST00000634433.2:c.321del ENSP00000489431.2:p.Phe107LeufsTer12
ENST00000642945.1:c.*195del ENSP00000495897.1:n.*195del
ENST00000644379.2:c.321del ENSP00000496570.2:p.Phe107LeufsTer12
ENST00000644555.1:c.180del ENSP00000494614.1:p.Phe60LeufsTer?
ENST00000644555.2:c.180del ENSP00000494614.2:p.Phe60LeufsTer12
ENST00000652672.1:c.180del ENSP00000498906.1:p.Phe60LeufsTer12
ENST00000652672.2:c.180del ENSP00000498906.2:p.Phe60LeufsTer12
ENST00000700083.1:n.1292del
ENST00000700182.1:c.243del ENSP00000514849.1:p.Phe81LeufsTer12
ENST00000700183.1:c.*235del ENSP00000514850.1:n.*235del
ENST00000700184.1:n.564del