Canonical Allele Identifier: CA2637620550
Community Standard Title: NM_004448.4(ERBB2):c.2177_2186del (p.Leu726ProfsTer18)
Gene: ERBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39723629_39723638del , CM000679.2:g.39723629_39723638del GRCh38
NC_000017.10:g.37879882_37879891del , CM000679.1:g.37879882_37879891del GRCh37
NC_000017.9:g.35133408_35133417del NCBI36
NG_007503.1:g.40490_40499del , LRG_724:g.40490_40499del

Transcript Alleles

HGVS Amino-acid Change
NM_004448.4:c.2177_2186del MANE Select NP_004439.2:p.Leu726ProfsTer18
ENST00000269571.10:c.2177_2186del MANE Select ENSP00000269571.4:p.Leu726ProfsTer18
NM_001005862.2:c.2087_2096del , LRG_724t1:c.2087_2096del NP_001005862.1:p.Leu696ProfsTer18
NM_001005862.3:c.2087_2096del NP_001005862.1:p.Leu696ProfsTer18
NM_001289936.1:c.2132_2141del , LRG_724t4:c.2132_2141del NP_001276865.1:p.Leu711ProfsTer18
NM_001289936.2:c.2132_2141del NP_001276865.1:p.Leu711ProfsTer18
NM_001289937.1:c.2177_2186del NP_001276866.1:p.Leu726ProfsTer18
NM_001289937.2:c.2177_2186del NP_001276866.1:p.Leu726ProfsTer18
NM_001382782.1:c.2087_2096del NP_001369711.1:p.Leu696ProfsTer18
NM_001382783.1:c.2087_2096del NP_001369712.1:p.Leu696ProfsTer18
NM_001382784.1:c.2294_2303del NP_001369713.1:p.Leu765ProfsTer18
NM_001382785.1:c.2279_2288del NP_001369714.1:p.Leu760ProfsTer18
NM_001382786.1:c.2289+5_2289+14del NP_001369715.1:n.2289+5_2289+14del
NM_001382787.1:c.2252_2261del NP_001369716.1:p.Leu751ProfsTer18
NM_001382788.1:c.2207_2216del NP_001369717.1:p.Leu736ProfsTer18
NM_001382789.1:c.2198_2207del NP_001369718.1:p.Leu733ProfsTer18
NM_001382790.1:c.2174_2183del NP_001369719.1:p.Leu725ProfsTer18
NM_001382791.1:c.2168_2177del NP_001369720.1:p.Leu723ProfsTer18
NM_001382792.1:c.2172+5_2172+14del NP_001369721.1:n.2172+5_2172+14del
NM_001382793.1:c.2166+11_2166+20del NP_001369722.1:n.2166+11_2166+20del
NM_001382794.1:c.2135_2144del NP_001369723.1:p.Leu712ProfsTer18
NM_001382795.1:c.2129_2138del NP_001369724.1:p.Leu710ProfsTer18
NM_001382796.1:c.2177_2186del NP_001369725.1:p.Leu726ProfsTer18
NM_001382797.1:c.2177_2186del NP_001369726.1:p.Leu726ProfsTer12
NM_001382798.1:c.2177_2186del NP_001369727.1:p.Leu726ProfsTer18
NM_001382799.1:c.1997_2006del NP_001369728.1:p.Leu666ProfsTer18
NM_001382800.1:c.2177_2186del NP_001369729.1:p.Leu726ProfsTer18
NM_001382801.1:c.2129_2138del NP_001369730.1:p.Leu710ProfsTer18
NM_001382802.1:c.1919_1928del NP_001369731.1:p.Leu640ProfsTer18
NM_001382803.1:c.2166+11_2166+20del NP_001369732.1:n.2166+11_2166+20del
NM_001382804.1:c.1349_1358del NP_001369733.1:p.Leu450ProfsTer18
NM_001382805.1:c.2177_2186del NP_001369734.1:p.Leu726ProfsTer14
NM_001382806.1:c.1223-335_1223-326del NP_001369735.1:n.1223-335_1223-326del
NM_004448.3:c.2177_2186del , LRG_724t2:c.2177_2186del NP_004439.2:p.Leu726ProfsTer18
NR_110535.1:n.2501_2510del
NR_110535.2:n.2415_2424del
ENST00000269571.9:c.2177_2186del ENSP00000269571.4:p.Leu726ProfsTer18
ENST00000406381.6:c.2087_2096del ENSP00000385185.2:p.Leu696ProfsTer18
ENST00000445658.6:c.1349_1358del ENSP00000404047.2:p.Leu450ProfsTer18
ENST00000541774.5:c.2132_2141del ENSP00000446466.1:p.Leu711ProfsTer18
ENST00000578373.5:c.*1967_*1976del ENSP00000463427.1:n.*1967_*1976del
ENST00000578630.1:n.786_795del
ENST00000580074.1:c.283_292del
ENST00000582818.5:c.490+5_490+14del
ENST00000583038.5:n.3311_3320del
ENST00000584450.5:c.2177_2186del ENSP00000463714.1:p.Leu726ProfsTer18
ENST00000584601.5:c.2087_2096del ENSP00000462438.1:p.Leu696ProfsTer18
XM_024450641.1:c.2315_2324del XP_024306409.1:p.Leu772ProfsTer18
XM_024450642.1:c.2270_2279del XP_024306410.1:p.Leu757ProfsTer18
XM_024450643.1:c.2225_2234del XP_024306411.1:p.Leu742ProfsTer18