Canonical Allele Identifier: CA2637622666

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39711929-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39711931del , CM000679.2:g.39711931del	GRCh38
NC_000017.10:g.37868184del , CM000679.1:g.37868184del	GRCh37
NC_000017.9:g.35121710del	NCBI36
NG_007503.1:g.28792del , LRG_724:g.28792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.905del MANE Select	ENSP00000269571.4:p.Asn302ThrfsTer21
ENST00000269571.9:c.905del	ENSP00000269571.4:p.Asn302ThrfsTer21
ENST00000406381.6:c.815del	ENSP00000385185.2:p.Asn272ThrfsTer21
ENST00000445658.6:c.77del	ENSP00000404047.2:p.Asn26ThrfsTer21
ENST00000541774.5:c.860del	ENSP00000446466.1:p.Asn287ThrfsTer21
ENST00000578199.5:c.815del	ENSP00000462808.1:p.Asn272ThrfsTer21
ENST00000578373.5:c.*695del	ENSP00000463427.1:n.*695del
ENST00000578502.1:c.130del
ENST00000582648.5:c.229del	ENSP00000462024.1:p.Thr77LeufsTer30
ENST00000582788.5:n.394del
ENST00000583038.5:n.1597del
ENST00000584450.5:c.905del	ENSP00000463714.1:p.Asn302ThrfsTer21
ENST00000584601.5:c.815del	ENSP00000462438.1:p.Asn272ThrfsTer21
ENST00000584908.5:n.917del
NM_001005862.2:c.815del , LRG_724t1:c.815del	NP_001005862.1:p.Asn272ThrfsTer21
NM_001289936.1:c.860del , LRG_724t4:c.860del	NP_001276865.1:p.Asn287ThrfsTer21
NM_001289937.1:c.905del	NP_001276866.1:p.Asn302ThrfsTer21
NM_001289938.1:c.815del , LRG_724t3:c.815del	NP_001276867.1:p.Asn272ThrfsTer21
NM_004448.3:c.905del , LRG_724t2:c.905del	NP_004439.2:p.Asn302ThrfsTer21
NR_110535.1:n.1229del
XM_024450641.1:c.1043del	XP_024306409.1:p.Asn348ThrfsTer21
XM_024450642.1:c.998del	XP_024306410.1:p.Asn333ThrfsTer21
XM_024450643.1:c.953del	XP_024306411.1:p.Asn318ThrfsTer21
NM_001005862.3:c.815del	NP_001005862.1:p.Asn272ThrfsTer21
NM_001289936.2:c.860del	NP_001276865.1:p.Asn287ThrfsTer21
NM_001289937.2:c.905del	NP_001276866.1:p.Asn302ThrfsTer21
NM_001289938.2:c.815del	NP_001276867.1:p.Asn272ThrfsTer21
NM_001382782.1:c.815del	NP_001369711.1:p.Asn272ThrfsTer21
NM_001382783.1:c.815del	NP_001369712.1:p.Asn272ThrfsTer21
NM_001382784.1:c.905del	NP_001369713.1:p.Asn302ThrfsTer21
NM_001382785.1:c.905del	NP_001369714.1:p.Asn302ThrfsTer21
NM_001382786.1:c.905del	NP_001369715.1:p.Asn302ThrfsTer21
NM_001382787.1:c.980del	NP_001369716.1:p.Asn327ThrfsTer21
NM_001382788.1:c.905del	NP_001369717.1:p.Asn302ThrfsTer21
NM_001382789.1:c.905del	NP_001369718.1:p.Asn302ThrfsTer21
NM_001382790.1:c.905del	NP_001369719.1:p.Asn302ThrfsTer21
NM_001382791.1:c.896del	NP_001369720.1:p.Asn299ThrfsTer21
NM_001382792.1:c.905del	NP_001369721.1:p.Asn302ThrfsTer21
NM_001382793.1:c.905del	NP_001369722.1:p.Asn302ThrfsTer21
NM_001382794.1:c.905del	NP_001369723.1:p.Asn302ThrfsTer21
NM_001382795.1:c.905del	NP_001369724.1:p.Asn302ThrfsTer21
NM_001382796.1:c.905del	NP_001369725.1:p.Asn302ThrfsTer21
NM_001382797.1:c.905del	NP_001369726.1:p.Asn302ThrfsTer21
NM_001382798.1:c.905del	NP_001369727.1:p.Asn302ThrfsTer21
NM_001382799.1:c.725del	NP_001369728.1:p.Asn242ThrfsTer21
NM_001382800.1:c.905del	NP_001369729.1:p.Asn302ThrfsTer21
NM_001382801.1:c.905del	NP_001369730.1:p.Asn302ThrfsTer21
NM_001382802.1:c.647del	NP_001369731.1:p.Asn216ThrfsTer21
NM_001382803.1:c.905del	NP_001369732.1:p.Asn302ThrfsTer21
NM_001382804.1:c.77del	NP_001369733.1:p.Asn26ThrfsTer21
NM_001382805.1:c.905del	NP_001369734.1:p.Asn302ThrfsTer21
NM_001382806.1:c.905del	NP_001369735.1:p.Asn302ThrfsTer21
NM_004448.4:c.905del MANE Select	NP_004439.2:p.Asn302ThrfsTer21
NR_110535.2:n.1143del