Canonical Allele Identifier: CA2637620575
Community Standard Title: NM_004448.4(ERBB2):c.2190_2196del (p.Phe731GlnfsTer14)
Gene: ERBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39723642_39723648del , CM000679.2:g.39723642_39723648del GRCh38
NC_000017.10:g.37879895_37879901del , CM000679.1:g.37879895_37879901del GRCh37
NC_000017.9:g.35133421_35133427del NCBI36
NG_007503.1:g.40503_40509del , LRG_724:g.40503_40509del

Transcript Alleles

HGVS Amino-acid Change
NM_004448.4:c.2190_2196del MANE Select NP_004439.2:p.Phe731GlnfsTer14
ENST00000269571.10:c.2190_2196del MANE Select ENSP00000269571.4:p.Phe731GlnfsTer14
NM_001005862.2:c.2100_2106del , LRG_724t1:c.2100_2106del NP_001005862.1:p.Phe701GlnfsTer14
NM_001005862.3:c.2100_2106del NP_001005862.1:p.Phe701GlnfsTer14
NM_001289936.1:c.2145_2151del , LRG_724t4:c.2145_2151del NP_001276865.1:p.Phe716GlnfsTer14
NM_001289936.2:c.2145_2151del NP_001276865.1:p.Phe716GlnfsTer14
NM_001289937.1:c.2190_2196del NP_001276866.1:p.Phe731GlnfsTer14
NM_001289937.2:c.2190_2196del NP_001276866.1:p.Phe731GlnfsTer14
NM_001382782.1:c.2100_2106del NP_001369711.1:p.Phe701GlnfsTer14
NM_001382783.1:c.2100_2106del NP_001369712.1:p.Phe701GlnfsTer14
NM_001382784.1:c.2307_2313del NP_001369713.1:p.Phe770GlnfsTer14
NM_001382785.1:c.2292_2298del NP_001369714.1:p.Phe765GlnfsTer14
NM_001382786.1:c.2289+18_2289+24del NP_001369715.1:n.2289+18_2289+24del
NM_001382787.1:c.2265_2271del NP_001369716.1:p.Phe756GlnfsTer14
NM_001382788.1:c.2220_2226del NP_001369717.1:p.Phe741GlnfsTer14
NM_001382789.1:c.2211_2217del NP_001369718.1:p.Phe738GlnfsTer14
NM_001382790.1:c.2187_2193del NP_001369719.1:p.Phe730GlnfsTer14
NM_001382791.1:c.2181_2187del NP_001369720.1:p.Phe728GlnfsTer14
NM_001382792.1:c.2172+18_2172+24del NP_001369721.1:n.2172+18_2172+24del
NM_001382793.1:c.2166+24_2166+30del NP_001369722.1:n.2166+24_2166+30del
NM_001382794.1:c.2148_2154del NP_001369723.1:p.Phe717GlnfsTer14
NM_001382795.1:c.2142_2148del NP_001369724.1:p.Phe715GlnfsTer14
NM_001382796.1:c.2190_2196del NP_001369725.1:p.Phe731GlnfsTer14
NM_001382797.1:c.2190_2196del NP_001369726.1:p.Phe731GlnfsTer8
NM_001382798.1:c.2190_2196del NP_001369727.1:p.Phe731GlnfsTer14
NM_001382799.1:c.2010_2016del NP_001369728.1:p.Phe671GlnfsTer14
NM_001382800.1:c.2190_2196del NP_001369729.1:p.Phe731GlnfsTer14
NM_001382801.1:c.2142_2148del NP_001369730.1:p.Phe715GlnfsTer14
NM_001382802.1:c.1932_1938del NP_001369731.1:p.Phe645GlnfsTer14
NM_001382803.1:c.2166+24_2166+30del NP_001369732.1:n.2166+24_2166+30del
NM_001382804.1:c.1362_1368del NP_001369733.1:p.Phe455GlnfsTer14
NM_001382805.1:c.2190_2196del NP_001369734.1:p.Phe731GlnfsTer10
NM_001382806.1:c.1223-322_1223-316del NP_001369735.1:n.1223-322_1223-316del
NM_004448.3:c.2190_2196del , LRG_724t2:c.2190_2196del NP_004439.2:p.Phe731GlnfsTer14
NR_110535.1:n.2514_2520del
NR_110535.2:n.2428_2434del
ENST00000269571.9:c.2190_2196del ENSP00000269571.4:p.Phe731GlnfsTer14
ENST00000406381.6:c.2100_2106del ENSP00000385185.2:p.Phe701GlnfsTer14
ENST00000445658.6:c.1362_1368del ENSP00000404047.2:p.Phe455GlnfsTer14
ENST00000541774.5:c.2145_2151del ENSP00000446466.1:p.Phe716GlnfsTer14
ENST00000578373.5:c.*1980_*1986del ENSP00000463427.1:n.*1980_*1986del
ENST00000578630.1:n.799_805del
ENST00000580074.1:c.296_302del
ENST00000582818.5:c.490+18_490+24del
ENST00000583038.5:n.3324_3330del
ENST00000584450.5:c.2190_2196del ENSP00000463714.1:p.Phe731GlnfsTer14
ENST00000584601.5:c.2100_2106del ENSP00000462438.1:p.Phe701GlnfsTer14
XM_024450641.1:c.2328_2334del XP_024306409.1:p.Phe777GlnfsTer14
XM_024450642.1:c.2283_2289del XP_024306410.1:p.Phe762GlnfsTer14
XM_024450643.1:c.2238_2244del XP_024306411.1:p.Phe747GlnfsTer14