Canonical Allele Identifier: CA983630390

Gene: ERBB2

Linked Data

• gnomAD v3: 17-39724272-ATTTT-A
• gnomAD v4: 17-39724272-ATTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724285_39724288del , CM000679.2:g.39724285_39724288del	GRCh38
NC_000017.10:g.37880538_37880541del , CM000679.1:g.37880538_37880541del	GRCh37
NC_000017.9:g.35134064_35134067del	NCBI36
NG_007503.1:g.41146_41149del , LRG_724:g.41146_41149del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2307+275_2307+278del MANE Select	ENSP00000269571.4:n.2307+275_2307+278del
ENST00000269571.9:c.2307+275_2307+278del	ENSP00000269571.4:n.2307+275_2307+278del
ENST00000406381.6:c.2217+275_2217+278del	ENSP00000385185.2:n.2217+275_2217+278del
ENST00000445658.6:c.1479+275_1479+278del	ENSP00000404047.2:n.1479+275_1479+278del
ENST00000541774.5:c.2262+275_2262+278del	ENSP00000446466.1:n.2262+275_2262+278del
ENST00000578373.5:c.*2097+275_*2097+278del	ENSP00000463427.1:n.*2097+275_*2097+278del
ENST00000580074.1:c.413+275_413+278del
ENST00000583038.5:n.3441+275_3441+278del
ENST00000584450.5:c.2307+275_2307+278del	ENSP00000463714.1:n.2307+275_2307+278del
ENST00000584601.5:c.2217+275_2217+278del	ENSP00000462438.1:n.2217+275_2217+278del
NM_001005862.2:c.2217+275_2217+278del , LRG_724t1:c.2217+275_2217+278del	NP_001005862.1:n.2217+275_2217+278del
NM_001289936.1:c.2262+275_2262+278del , LRG_724t4:c.2262+275_2262+278del	NP_001276865.1:n.2262+275_2262+278del
NM_001289937.1:c.2307+275_2307+278del	NP_001276866.1:n.2307+275_2307+278del
NM_004448.3:c.2307+275_2307+278del , LRG_724t2:c.2307+275_2307+278del	NP_004439.2:n.2307+275_2307+278del
NR_110535.1:n.2631+275_2631+278del
XM_024450641.1:c.2445+275_2445+278del	XP_024306409.1:n.2445+275_2445+278del
XM_024450642.1:c.2400+275_2400+278del	XP_024306410.1:n.2400+275_2400+278del
XM_024450643.1:c.2355+275_2355+278del	XP_024306411.1:n.2355+275_2355+278del
NM_001005862.3:c.2217+275_2217+278del	NP_001005862.1:n.2217+275_2217+278del
NM_001289936.2:c.2262+275_2262+278del	NP_001276865.1:n.2262+275_2262+278del
NM_001289937.2:c.2307+275_2307+278del	NP_001276866.1:n.2307+275_2307+278del
NM_001382782.1:c.2217+275_2217+278del	NP_001369711.1:n.2217+275_2217+278del
NM_001382783.1:c.2217+275_2217+278del	NP_001369712.1:n.2217+275_2217+278del
NM_001382784.1:c.2424+275_2424+278del	NP_001369713.1:n.2424+275_2424+278del
NM_001382785.1:c.2409+275_2409+278del	NP_001369714.1:n.2409+275_2409+278del
NM_001382786.1:c.2388+275_2388+278del	NP_001369715.1:n.2388+275_2388+278del
NM_001382787.1:c.2382+275_2382+278del	NP_001369716.1:n.2382+275_2382+278del
NM_001382788.1:c.2337+275_2337+278del	NP_001369717.1:n.2337+275_2337+278del
NM_001382789.1:c.2328+275_2328+278del	NP_001369718.1:n.2328+275_2328+278del
NM_001382790.1:c.2304+275_2304+278del	NP_001369719.1:n.2304+275_2304+278del
NM_001382791.1:c.2298+275_2298+278del	NP_001369720.1:n.2298+275_2298+278del
NM_001382792.1:c.2271+275_2271+278del	NP_001369721.1:n.2271+275_2271+278del
NM_001382793.1:c.2265+275_2265+278del	NP_001369722.1:n.2265+275_2265+278del
NM_001382794.1:c.2265+275_2265+278del	NP_001369723.1:n.2265+275_2265+278del
NM_001382795.1:c.2259+275_2259+278del	NP_001369724.1:n.2259+275_2259+278del
NM_001382796.1:c.2307+275_2307+278del	NP_001369725.1:n.2307+275_2307+278del
NM_001382797.1:c.2209-441_2209-438del	NP_001369726.1:n.2209-441_2209-438del
NM_001382798.1:c.2307+275_2307+278del	NP_001369727.1:n.2307+275_2307+278del
NM_001382799.1:c.2127+275_2127+278del	NP_001369728.1:n.2127+275_2127+278del
NM_001382800.1:c.2307+275_2307+278del	NP_001369729.1:n.2307+275_2307+278del
NM_001382801.1:c.2259+275_2259+278del	NP_001369730.1:n.2259+275_2259+278del
NM_001382802.1:c.2049+275_2049+278del	NP_001369731.1:n.2049+275_2049+278del
NM_001382803.1:c.2265+275_2265+278del	NP_001369732.1:n.2265+275_2265+278del
NM_001382804.1:c.1479+275_1479+278del	NP_001369733.1:n.1479+275_1479+278del
NM_001382805.1:c.2208+625_2208+628del	NP_001369734.1:n.2208+625_2208+628del
NM_001382806.1:c.1269+275_1269+278del	NP_001369735.1:n.1269+275_1269+278del
NM_004448.4:c.2307+275_2307+278del MANE Select	NP_004439.2:n.2307+275_2307+278del
NR_110535.2:n.2545+275_2545+278del