Canonical Allele Identifier: CA2519774715
Gene: ERBB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.39724266_39724406del , CM000679.2:g.39724266_39724406del GRCh38
NC_000017.10:g.37880519_37880659del , CM000679.1:g.37880519_37880659del GRCh37
NC_000017.9:g.35134045_35134185del NCBI36
NG_007503.1:g.41127_41267del , LRG_724:g.41127_41267del

Transcript Alleles

HGVS Amino-acid Change
ENST00000269571.10:c.2307+256_2308-320del MANE Select ENSP00000269571.4:n.2307+256_2308-320del
ENST00000269571.9:c.2307+256_2308-320del ENSP00000269571.4:n.2307+256_2308-320del
ENST00000406381.6:c.2217+256_2218-320del ENSP00000385185.2:n.2217+256_2218-320del
ENST00000445658.6:c.1479+256_1480-320del ENSP00000404047.2:n.1479+256_1480-320del
ENST00000541774.5:c.2262+256_2263-320del ENSP00000446466.1:n.2262+256_2263-320del
ENST00000578373.5:c.*2097+256_*2098-320del ENSP00000463427.1:n.*2097+256_*2098-320del
ENST00000580074.1:c.413+256_414-320del
ENST00000583038.5:n.3441+256_3442-320del
ENST00000584450.5:c.2307+256_2308-320del ENSP00000463714.1:n.2307+256_2308-320del
ENST00000584601.5:c.2217+256_2218-320del ENSP00000462438.1:n.2217+256_2218-320del
NM_001005862.2:c.2217+256_2218-320del , LRG_724t1:c.2217+256_2218-320del NP_001005862.1:n.2217+256_2218-320del
NM_001289936.1:c.2262+256_2263-320del , LRG_724t4:c.2262+256_2263-320del NP_001276865.1:n.2262+256_2263-320del
NM_001289937.1:c.2307+256_2308-320del NP_001276866.1:n.2307+256_2308-320del
NM_004448.3:c.2307+256_2308-320del , LRG_724t2:c.2307+256_2308-320del NP_004439.2:n.2307+256_2308-320del
NR_110535.1:n.2631+256_2632-320del
XM_024450641.1:c.2445+256_2446-320del XP_024306409.1:n.2445+256_2446-320del
XM_024450642.1:c.2400+256_2401-320del XP_024306410.1:n.2400+256_2401-320del
XM_024450643.1:c.2355+256_2356-320del XP_024306411.1:n.2355+256_2356-320del
NM_001005862.3:c.2217+256_2218-320del NP_001005862.1:n.2217+256_2218-320del
NM_001289936.2:c.2262+256_2263-320del NP_001276865.1:n.2262+256_2263-320del
NM_001289937.2:c.2307+256_2308-320del NP_001276866.1:n.2307+256_2308-320del
NM_001382782.1:c.2217+256_2218-320del NP_001369711.1:n.2217+256_2218-320del
NM_001382783.1:c.2217+256_2218-320del NP_001369712.1:n.2217+256_2218-320del
NM_001382784.1:c.2424+256_2425-320del NP_001369713.1:n.2424+256_2425-320del
NM_001382785.1:c.2409+256_2410-320del NP_001369714.1:n.2409+256_2410-320del
NM_001382786.1:c.2388+256_2389-320del NP_001369715.1:n.2388+256_2389-320del
NM_001382787.1:c.2382+256_2383-320del NP_001369716.1:n.2382+256_2383-320del
NM_001382788.1:c.2337+256_2338-320del NP_001369717.1:n.2337+256_2338-320del
NM_001382789.1:c.2328+256_2329-320del NP_001369718.1:n.2328+256_2329-320del
NM_001382790.1:c.2304+256_2305-320del NP_001369719.1:n.2304+256_2305-320del
NM_001382791.1:c.2298+256_2299-320del NP_001369720.1:n.2298+256_2299-320del
NM_001382792.1:c.2271+256_2272-320del NP_001369721.1:n.2271+256_2272-320del
NM_001382793.1:c.2265+256_2266-320del NP_001369722.1:n.2265+256_2266-320del
NM_001382794.1:c.2265+256_2266-320del NP_001369723.1:n.2265+256_2266-320del
NM_001382795.1:c.2259+256_2260-320del NP_001369724.1:n.2259+256_2260-320del
NM_001382796.1:c.2307+256_2308-320del NP_001369725.1:n.2307+256_2308-320del
NM_001382797.1:c.2209-460_2209-320del NP_001369726.1:n.2209-460_2209-320del
NM_001382798.1:c.2307+256_2308-320del NP_001369727.1:n.2307+256_2308-320del
NM_001382799.1:c.2127+256_2128-320del NP_001369728.1:n.2127+256_2128-320del
NM_001382800.1:c.2307+256_2307+396del NP_001369729.1:n.2307+256_2307+396del
NM_001382801.1:c.2259+256_2260-320del NP_001369730.1:n.2259+256_2260-320del
NM_001382802.1:c.2049+256_2050-320del NP_001369731.1:n.2049+256_2050-320del
NM_001382803.1:c.2265+256_2266-320del NP_001369732.1:n.2265+256_2266-320del
NM_001382804.1:c.1479+256_1480-320del NP_001369733.1:n.1479+256_1480-320del
NM_001382805.1:c.2208+606_2208+746del NP_001369734.1:n.2208+606_2208+746del
NM_001382806.1:c.1269+256_1270-320del NP_001369735.1:n.1269+256_1270-320del
NM_004448.4:c.2307+256_2308-320del MANE Select NP_004439.2:n.2307+256_2308-320del
NR_110535.2:n.2545+256_2546-320del