Canonical Allele Identifier: CA8534533

Gene: ERBB2

Linked Data

• dbSNP Id: rs766671083
• ExAC: 17:37883773 G / GC
• gnomAD v2: 17-37883773-G-GC
• gnomAD v4: 17-39727520-G-GC
• MyVariant Identifiers: chr17:g.37883774_37883775insC (hg19) ; chr17:g.37883773_37883774insC (hg19) ; chr17:g.39727520_39727521insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727526dup , CM000679.2:g.39727526dup	GRCh38
NC_000017.10:g.37883779dup , CM000679.1:g.37883779dup	GRCh37
NC_000017.9:g.35137305dup	NCBI36
NG_007503.1:g.44387dup , LRG_724:g.44387dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3391dup MANE Select	ENSP00000269571.4:p.Leu1131ProfsTer8
ENST00000269571.9:c.3391dup	ENSP00000269571.4:p.Leu1131ProfsTer8
ENST00000406381.6:c.3301dup	ENSP00000385185.2:p.Leu1101ProfsTer8
ENST00000445658.6:c.2563dup	ENSP00000404047.2:p.Leu855ProfsTer8
ENST00000541774.5:c.3346dup	ENSP00000446466.1:p.Leu1116ProfsTer8
ENST00000578373.5:c.*3181dup	ENSP00000463427.1:n.*3181dup
ENST00000584450.5:c.3160-163dup	ENSP00000463714.1:n.3160-163dup
ENST00000584601.5:c.3301dup	ENSP00000462438.1:p.Leu1101ProfsTer8
NM_001005862.2:c.3301dup , LRG_724t1:c.3301dup	NP_001005862.1:p.Leu1101ProfsTer8
NM_001289936.1:c.3346dup , LRG_724t4:c.3346dup	NP_001276865.1:p.Leu1116ProfsTer8
NM_001289937.1:c.3160-163dup	NP_001276866.1:n.3160-163dup
NM_004448.3:c.3391dup , LRG_724t2:c.3391dup	NP_004439.2:p.Leu1131ProfsTer8
NR_110535.1:n.3715dup
XM_024450641.1:c.3529dup	XP_024306409.1:p.Leu1177ProfsTer8
XM_024450642.1:c.3484dup	XP_024306410.1:p.Leu1162ProfsTer8
XM_024450643.1:c.3439dup	XP_024306411.1:p.Leu1147ProfsTer8
NM_001005862.3:c.3301dup	NP_001005862.1:p.Leu1101ProfsTer8
NM_001289936.2:c.3346dup	NP_001276865.1:p.Leu1116ProfsTer8
NM_001289937.2:c.3160-163dup	NP_001276866.1:n.3160-163dup
NM_001382782.1:c.3301dup	NP_001369711.1:p.Leu1101ProfsTer8
NM_001382783.1:c.3301dup	NP_001369712.1:p.Leu1101ProfsTer8
NM_001382784.1:c.3508dup	NP_001369713.1:p.Leu1170ProfsTer8
NM_001382785.1:c.3493dup	NP_001369714.1:p.Leu1165ProfsTer8
NM_001382786.1:c.3472dup	NP_001369715.1:p.Leu1158ProfsTer8
NM_001382787.1:c.3466dup	NP_001369716.1:p.Leu1156ProfsTer8
NM_001382788.1:c.3421dup	NP_001369717.1:p.Leu1141ProfsTer8
NM_001382789.1:c.3412dup	NP_001369718.1:p.Leu1138ProfsTer8
NM_001382790.1:c.3388dup	NP_001369719.1:p.Leu1130ProfsTer8
NM_001382791.1:c.3382dup	NP_001369720.1:p.Leu1128ProfsTer8
NM_001382792.1:c.3355dup	NP_001369721.1:p.Leu1119ProfsTer8
NM_001382793.1:c.3349dup	NP_001369722.1:p.Leu1117ProfsTer8
NM_001382794.1:c.3349dup	NP_001369723.1:p.Leu1117ProfsTer8
NM_001382795.1:c.3343dup	NP_001369724.1:p.Leu1115ProfsTer8
NM_001382796.1:c.3304dup	NP_001369725.1:p.Leu1102ProfsTer8
NM_001382797.1:c.3292dup	NP_001369726.1:p.Leu1098ProfsTer8
NM_001382798.1:c.3235dup	NP_001369727.1:p.Leu1079ProfsTer8
NM_001382799.1:c.3211dup	NP_001369728.1:p.Leu1071ProfsTer8
NM_001382800.1:c.3205dup	NP_001369729.1:p.Leu1069ProfsTer8
NM_001382801.1:c.3187dup	NP_001369730.1:p.Leu1063ProfsTer8
NM_001382802.1:c.3133dup	NP_001369731.1:p.Leu1045ProfsTer8
NM_001382803.1:c.3118-163dup	NP_001369732.1:n.3118-163dup
NM_001382804.1:c.2563dup	NP_001369733.1:p.Leu855ProfsTer8
NM_001382805.1:c.2440dup	NP_001369734.1:p.Leu814ProfsTer8
NM_001382806.1:c.2353dup	NP_001369735.1:p.Leu785ProfsTer8
NM_004448.4:c.3391dup MANE Select	NP_004439.2:p.Leu1131ProfsTer8
NR_110535.2:n.3629dup