Canonical Allele Identifier: CA499890285

Gene: ERBB2

Linked Data

• dbSNP Id: rs766671083
• gnomAD v2: 17-37883773-GC-G
• gnomAD v4: 17-39727520-GC-G
• COSMIC: COSM238526 ; COSM4681501
• MyVariant Identifiers: chr17:g.37883779del (hg19) ; chr17:g.37883774del (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3391del MANE Select	ENSP00000269571.4:p.Leu1131Ter
ENST00000269571.9:c.3391del	ENSP00000269571.4:p.Leu1131Ter
ENST00000406381.6:c.3301del	ENSP00000385185.2:p.Leu1101Ter
ENST00000445658.6:c.2563del	ENSP00000404047.2:p.Leu855Ter
ENST00000541774.5:c.3346del	ENSP00000446466.1:p.Leu1116Ter
ENST00000578373.5:c.*3181del	ENSP00000463427.1:n.*3181del
ENST00000584450.5:c.3160-163del	ENSP00000463714.1:n.3160-163del
ENST00000584601.5:c.3301del	ENSP00000462438.1:p.Leu1101Ter
NM_001005862.2:c.3301del , LRG_724t1:c.3301del	NP_001005862.1:p.Leu1101Ter
NM_001289936.1:c.3346del , LRG_724t4:c.3346del	NP_001276865.1:p.Leu1116Ter
NM_001289937.1:c.3160-163del	NP_001276866.1:n.3160-163del
NM_004448.3:c.3391del , LRG_724t2:c.3391del	NP_004439.2:p.Leu1131Ter
NR_110535.1:n.3715del
XM_024450641.1:c.3529del	XP_024306409.1:p.Leu1177Ter
XM_024450642.1:c.3484del	XP_024306410.1:p.Leu1162Ter
XM_024450643.1:c.3439del	XP_024306411.1:p.Leu1147Ter
NM_001005862.3:c.3301del	NP_001005862.1:p.Leu1101Ter
NM_001289936.2:c.3346del	NP_001276865.1:p.Leu1116Ter
NM_001289937.2:c.3160-163del	NP_001276866.1:n.3160-163del
NM_001382782.1:c.3301del	NP_001369711.1:p.Leu1101Ter
NM_001382783.1:c.3301del	NP_001369712.1:p.Leu1101Ter
NM_001382784.1:c.3508del	NP_001369713.1:p.Leu1170Ter
NM_001382785.1:c.3493del	NP_001369714.1:p.Leu1165Ter
NM_001382786.1:c.3472del	NP_001369715.1:p.Leu1158Ter
NM_001382787.1:c.3466del	NP_001369716.1:p.Leu1156Ter
NM_001382788.1:c.3421del	NP_001369717.1:p.Leu1141Ter
NM_001382789.1:c.3412del	NP_001369718.1:p.Leu1138Ter
NM_001382790.1:c.3388del	NP_001369719.1:p.Leu1130Ter
NM_001382791.1:c.3382del	NP_001369720.1:p.Leu1128Ter
NM_001382792.1:c.3355del	NP_001369721.1:p.Leu1119Ter
NM_001382793.1:c.3349del	NP_001369722.1:p.Leu1117Ter
NM_001382794.1:c.3349del	NP_001369723.1:p.Leu1117Ter
NM_001382795.1:c.3343del	NP_001369724.1:p.Leu1115Ter
NM_001382796.1:c.3304del	NP_001369725.1:p.Leu1102Ter
NM_001382797.1:c.3292del	NP_001369726.1:p.Leu1098Ter
NM_001382798.1:c.3235del	NP_001369727.1:p.Leu1079Ter
NM_001382799.1:c.3211del	NP_001369728.1:p.Leu1071Ter
NM_001382800.1:c.3205del	NP_001369729.1:p.Leu1069Ter
NM_001382801.1:c.3187del	NP_001369730.1:p.Leu1063Ter
NM_001382802.1:c.3133del	NP_001369731.1:p.Leu1045Ter
NM_001382803.1:c.3118-163del	NP_001369732.1:n.3118-163del
NM_001382804.1:c.2563del	NP_001369733.1:p.Leu855Ter
NM_001382805.1:c.2440del	NP_001369734.1:p.Leu814Ter
NM_001382806.1:c.2353del	NP_001369735.1:p.Leu785Ter
NM_004448.4:c.3391del MANE Select	NP_004439.2:p.Leu1131Ter
NR_110535.2:n.3629del