Canonical Allele Identifier: CA2841124898
Community Standard Title: NM_004448.4(ERBB2):c.2193del (p.Phe731LeufsTer16)
Gene: ERBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39723645del , CM000679.2:g.39723645del GRCh38
NC_000017.10:g.37879898del , CM000679.1:g.37879898del GRCh37
NC_000017.9:g.35133424del NCBI36
NG_007503.1:g.40506del , LRG_724:g.40506del

Transcript Alleles

HGVS Amino-acid Change
NM_004448.4:c.2193del MANE Select NP_004439.2:p.Phe731LeufsTer16
ENST00000269571.10:c.2193del MANE Select ENSP00000269571.4:p.Phe731LeufsTer16
NM_001005862.2:c.2103del , LRG_724t1:c.2103del NP_001005862.1:p.Phe701LeufsTer16
NM_001005862.3:c.2103del NP_001005862.1:p.Phe701LeufsTer16
NM_001289936.1:c.2148del , LRG_724t4:c.2148del NP_001276865.1:p.Phe716LeufsTer16
NM_001289936.2:c.2148del NP_001276865.1:p.Phe716LeufsTer16
NM_001289937.1:c.2193del NP_001276866.1:p.Phe731LeufsTer16
NM_001289937.2:c.2193del NP_001276866.1:p.Phe731LeufsTer16
NM_001382782.1:c.2103del NP_001369711.1:p.Phe701LeufsTer16
NM_001382783.1:c.2103del NP_001369712.1:p.Phe701LeufsTer16
NM_001382784.1:c.2310del NP_001369713.1:p.Phe770LeufsTer16
NM_001382785.1:c.2295del NP_001369714.1:p.Phe765LeufsTer16
NM_001382786.1:c.2289+21del NP_001369715.1:n.2289+21del
NM_001382787.1:c.2268del NP_001369716.1:p.Phe756LeufsTer16
NM_001382788.1:c.2223del NP_001369717.1:p.Phe741LeufsTer16
NM_001382789.1:c.2214del NP_001369718.1:p.Phe738LeufsTer16
NM_001382790.1:c.2190del NP_001369719.1:p.Phe730LeufsTer16
NM_001382791.1:c.2184del NP_001369720.1:p.Phe728LeufsTer16
NM_001382792.1:c.2172+21del NP_001369721.1:n.2172+21del
NM_001382793.1:c.2166+27del NP_001369722.1:n.2166+27del
NM_001382794.1:c.2151del NP_001369723.1:p.Phe717LeufsTer16
NM_001382795.1:c.2145del NP_001369724.1:p.Phe715LeufsTer16
NM_001382796.1:c.2193del NP_001369725.1:p.Phe731LeufsTer16
NM_001382797.1:c.2193del NP_001369726.1:p.Phe731LeufsTer10
NM_001382798.1:c.2193del NP_001369727.1:p.Phe731LeufsTer16
NM_001382799.1:c.2013del NP_001369728.1:p.Phe671LeufsTer16
NM_001382800.1:c.2193del NP_001369729.1:p.Phe731LeufsTer16
NM_001382801.1:c.2145del NP_001369730.1:p.Phe715LeufsTer16
NM_001382802.1:c.1935del NP_001369731.1:p.Phe645LeufsTer16
NM_001382803.1:c.2166+27del NP_001369732.1:n.2166+27del
NM_001382804.1:c.1365del NP_001369733.1:p.Phe455LeufsTer16
NM_001382805.1:c.2193del NP_001369734.1:p.Phe731LeufsTer12
NM_001382806.1:c.1223-319del NP_001369735.1:n.1223-319del
NM_004448.3:c.2193del , LRG_724t2:c.2193del NP_004439.2:p.Phe731LeufsTer16
NR_110535.1:n.2517del
NR_110535.2:n.2431del
ENST00000269571.9:c.2193del ENSP00000269571.4:p.Phe731LeufsTer16
ENST00000406381.6:c.2103del ENSP00000385185.2:p.Phe701LeufsTer16
ENST00000445658.6:c.1365del ENSP00000404047.2:p.Phe455LeufsTer16
ENST00000541774.5:c.2148del ENSP00000446466.1:p.Phe716LeufsTer16
ENST00000578373.5:c.*1983del ENSP00000463427.1:n.*1983del
ENST00000578630.1:n.802del
ENST00000580074.1:c.299del
ENST00000582818.5:c.490+21del
ENST00000583038.5:n.3327del
ENST00000584450.5:c.2193del ENSP00000463714.1:p.Phe731LeufsTer16
ENST00000584601.5:c.2103del ENSP00000462438.1:p.Phe701LeufsTer16
XM_024450641.1:c.2331del XP_024306409.1:p.Phe777LeufsTer16
XM_024450642.1:c.2286del XP_024306410.1:p.Phe762LeufsTer16
XM_024450643.1:c.2241del XP_024306411.1:p.Phe747LeufsTer16