Canonical Allele Identifier: CA983631006

Gene: ERBB2

Linked Data

• dbSNP Id: rs2059623946
• gnomAD v3: 17-39724293-CAG-C
• gnomAD v4: 17-39724293-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724296_39724297del , CM000679.2:g.39724296_39724297del	GRCh38
NC_000017.10:g.37880549_37880550del , CM000679.1:g.37880549_37880550del	GRCh37
NC_000017.9:g.35134075_35134076del	NCBI36
NG_007503.1:g.41157_41158del , LRG_724:g.41157_41158del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2307+286_2307+287del MANE Select	ENSP00000269571.4:n.2307+286_2307+287del
ENST00000269571.9:c.2307+286_2307+287del	ENSP00000269571.4:n.2307+286_2307+287del
ENST00000406381.6:c.2217+286_2217+287del	ENSP00000385185.2:n.2217+286_2217+287del
ENST00000445658.6:c.1479+286_1479+287del	ENSP00000404047.2:n.1479+286_1479+287del
ENST00000541774.5:c.2262+286_2262+287del	ENSP00000446466.1:n.2262+286_2262+287del
ENST00000578373.5:c.*2097+286_*2097+287del	ENSP00000463427.1:n.*2097+286_*2097+287del
ENST00000580074.1:c.413+286_413+287del
ENST00000583038.5:n.3441+286_3441+287del
ENST00000584450.5:c.2307+286_2307+287del	ENSP00000463714.1:n.2307+286_2307+287del
ENST00000584601.5:c.2217+286_2217+287del	ENSP00000462438.1:n.2217+286_2217+287del
NM_001005862.2:c.2217+286_2217+287del , LRG_724t1:c.2217+286_2217+287del	NP_001005862.1:n.2217+286_2217+287del
NM_001289936.1:c.2262+286_2262+287del , LRG_724t4:c.2262+286_2262+287del	NP_001276865.1:n.2262+286_2262+287del
NM_001289937.1:c.2307+286_2307+287del	NP_001276866.1:n.2307+286_2307+287del
NM_004448.3:c.2307+286_2307+287del , LRG_724t2:c.2307+286_2307+287del	NP_004439.2:n.2307+286_2307+287del
NR_110535.1:n.2631+286_2631+287del
XM_024450641.1:c.2445+286_2445+287del	XP_024306409.1:n.2445+286_2445+287del
XM_024450642.1:c.2400+286_2400+287del	XP_024306410.1:n.2400+286_2400+287del
XM_024450643.1:c.2355+286_2355+287del	XP_024306411.1:n.2355+286_2355+287del
NM_001005862.3:c.2217+286_2217+287del	NP_001005862.1:n.2217+286_2217+287del
NM_001289936.2:c.2262+286_2262+287del	NP_001276865.1:n.2262+286_2262+287del
NM_001289937.2:c.2307+286_2307+287del	NP_001276866.1:n.2307+286_2307+287del
NM_001382782.1:c.2217+286_2217+287del	NP_001369711.1:n.2217+286_2217+287del
NM_001382783.1:c.2217+286_2217+287del	NP_001369712.1:n.2217+286_2217+287del
NM_001382784.1:c.2424+286_2424+287del	NP_001369713.1:n.2424+286_2424+287del
NM_001382785.1:c.2409+286_2409+287del	NP_001369714.1:n.2409+286_2409+287del
NM_001382786.1:c.2388+286_2388+287del	NP_001369715.1:n.2388+286_2388+287del
NM_001382787.1:c.2382+286_2382+287del	NP_001369716.1:n.2382+286_2382+287del
NM_001382788.1:c.2337+286_2337+287del	NP_001369717.1:n.2337+286_2337+287del
NM_001382789.1:c.2328+286_2328+287del	NP_001369718.1:n.2328+286_2328+287del
NM_001382790.1:c.2304+286_2304+287del	NP_001369719.1:n.2304+286_2304+287del
NM_001382791.1:c.2298+286_2298+287del	NP_001369720.1:n.2298+286_2298+287del
NM_001382792.1:c.2271+286_2271+287del	NP_001369721.1:n.2271+286_2271+287del
NM_001382793.1:c.2265+286_2265+287del	NP_001369722.1:n.2265+286_2265+287del
NM_001382794.1:c.2265+286_2265+287del	NP_001369723.1:n.2265+286_2265+287del
NM_001382795.1:c.2259+286_2259+287del	NP_001369724.1:n.2259+286_2259+287del
NM_001382796.1:c.2307+286_2307+287del	NP_001369725.1:n.2307+286_2307+287del
NM_001382797.1:c.2209-430_2209-429del	NP_001369726.1:n.2209-430_2209-429del
NM_001382798.1:c.2307+286_2307+287del	NP_001369727.1:n.2307+286_2307+287del
NM_001382799.1:c.2127+286_2127+287del	NP_001369728.1:n.2127+286_2127+287del
NM_001382800.1:c.2307+286_2307+287del	NP_001369729.1:n.2307+286_2307+287del
NM_001382801.1:c.2259+286_2259+287del	NP_001369730.1:n.2259+286_2259+287del
NM_001382802.1:c.2049+286_2049+287del	NP_001369731.1:n.2049+286_2049+287del
NM_001382803.1:c.2265+286_2265+287del	NP_001369732.1:n.2265+286_2265+287del
NM_001382804.1:c.1479+286_1479+287del	NP_001369733.1:n.1479+286_1479+287del
NM_001382805.1:c.2208+636_2208+637del	NP_001369734.1:n.2208+636_2208+637del
NM_001382806.1:c.1269+286_1269+287del	NP_001369735.1:n.1269+286_1269+287del
NM_004448.4:c.2307+286_2307+287del MANE Select	NP_004439.2:n.2307+286_2307+287del
NR_110535.2:n.2545+286_2545+287del