Canonical Allele Identifier: CA2580094190
Community Standard Title: NM_007294.4(BRCA1):c.4679del (p.Gly1560GlufsTer?)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43071237del , CM000679.2:g.43071237del GRCh38
NC_000017.10:g.41223254del , CM000679.1:g.41223254del GRCh37
NC_000017.9:g.38476780del NCBI36
NG_005905.2:g.146749del , LRG_292:g.146749del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.4679del MANE Select NP_009225.1:p.Gly1560GlufsTer?
ENST00000357654.9:c.4679del MANE Select ENSP00000350283.3:p.Gly1560GlufsTer?
NM_007294.3:c.4679del , LRG_292t1:c.4679del NP_009225.1:p.Gly1560GlufsTer?
NM_007297.3:c.4538del NP_009228.2:p.Gly1513GlufsTer?
NM_007297.4:c.4538del NP_009228.2:p.Gly1513GlufsTer?
NM_007298.3:c.1367del NP_009229.2:p.Gly456GlufsTer?
NM_007299.3:c.1367del NP_009230.2:p.Gly456GlufsTer?
NM_007299.4:c.1367del NP_009230.2:p.Gly456GlufsTer?
NM_007300.3:c.4742del NP_009231.2:p.Gly1581GlufsTer?
NM_007300.4:c.4742del NP_009231.2:p.Gly1581GlufsTer?
NR_027676.1:n.4815del
NR_027676.2:n.4856del
ENST00000352993.7:c.1253del ENSP00000312236.5:p.Gly418GlufsTer?
ENST00000357654.7:c.4679del ENSP00000350283.3:p.Gly1560GlufsTer?
ENST00000461221.5:c.*4462del ENSP00000418548.1:n.*4462del
ENST00000461574.2:c.4676del ENSP00000417241.2:p.Gly1559GlufsTer?
ENST00000468300.5:c.1367del ENSP00000417148.1:p.Gly456GlufsTer?
ENST00000470026.6:c.4679del ENSP00000419274.2:p.Gly1560GlufsTer?
ENST00000471181.6:c.4742del ENSP00000418960.2:p.Gly1581GlufsTer?
ENST00000471181.7:c.4742del ENSP00000418960.2:p.Gly1581GlufsTer?
ENST00000473961.6:c.4553del ENSP00000420201.2:p.Gly1518GlufsTer?
ENST00000476777.6:c.4673del ENSP00000417554.2:p.Gly1558GlufsTer?
ENST00000477152.6:c.4601del ENSP00000419988.2:p.Gly1534GlufsTer?
ENST00000478531.5:c.1367del ENSP00000420412.1:p.Gly456GlufsTer?
ENST00000478531.6:c.1367del ENSP00000420412.2:p.Gly456GlufsTer?
ENST00000484087.5:c.992del ENSP00000419481.1:p.Gly331GlufsTer?
ENST00000484087.6:c.1241del ENSP00000419481.2:p.Gly414GlufsTer?
ENST00000489037.2:c.4601del ENSP00000420781.2:p.Gly1534GlufsTer?
ENST00000491747.6:c.1367del ENSP00000420705.2:p.Gly456GlufsTer?
ENST00000493795.5:c.4538del ENSP00000418775.1:p.Gly1513GlufsTer?
ENST00000493919.5:c.1229del ENSP00000418819.1:p.Gly410GlufsTer?
ENST00000493919.6:c.1229del ENSP00000418819.2:p.Gly410GlufsTer?
ENST00000494123.6:c.4679del ENSP00000419103.2:p.Gly1560GlufsTer?
ENST00000497488.2:c.3791del ENSP00000418986.2:p.Gly1264GlufsTer?
ENST00000586385.5:c.5-7284del ENSP00000465818.1:n.5-7284del
ENST00000591534.5:c.152del ENSP00000467329.1:p.Gly51GlufsTer?
ENST00000591849.5:c.-98-21045del ENSP00000465347.1:n.-98-21045del
ENST00000618469.2:c.4679del ENSP00000478114.2:p.Gly1560GlufsTer?
ENST00000634433.2:c.4556del ENSP00000489431.2:p.Gly1519GlufsTer?
ENST00000644379.1:c.1066del
ENST00000644379.2:c.4745del ENSP00000496570.2:p.Gly1582GlufsTer?
ENST00000644555.2:c.1229del ENSP00000494614.2:p.Gly410GlufsTer?
ENST00000652672.2:c.4538del ENSP00000498906.2:p.Gly1513GlufsTer?
ENST00000700182.1:c.1286del ENSP00000514849.1:p.Gly429GlufsTer?