Canonical Allele Identifier: CA8534579

Gene: ERBB2

Linked Data

• dbSNP Id: rs751889439
• ExAC: 17:37884066 GGTC / G
• gnomAD v2: 17-37884066-GGTC-G
• gnomAD v3: 17-39727813-GGTC-G
• gnomAD v4: 17-39727813-GGTC-G
• MyVariant Identifiers: chr17:g.37884067_37884069del (hg19) ; chr17:g.39727814_39727816del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727817_39727819del , CM000679.2:g.39727817_39727819del	GRCh38
NC_000017.10:g.37884070_37884072del , CM000679.1:g.37884070_37884072del	GRCh37
NC_000017.9:g.35137596_35137598del	NCBI36
NG_007503.1:g.44678_44680del , LRG_724:g.44678_44680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3541_3543del MANE Select	ENSP00000269571.4:p.Val1181del
ENST00000269571.9:c.3541_3543del	ENSP00000269571.4:p.Val1181del
ENST00000406381.6:c.3451_3453del	ENSP00000385185.2:p.Val1151del
ENST00000445658.6:c.2713_2715del	ENSP00000404047.2:p.Val905del
ENST00000541774.5:c.3496_3498del	ENSP00000446466.1:p.Val1166del
ENST00000578373.5:c.*3331_*3333del	ENSP00000463427.1:n.*3331_*3333del
ENST00000584450.5:c.*120_*122del	ENSP00000463714.1:n.*120_*122del
ENST00000584601.5:c.3451_3453del	ENSP00000462438.1:p.Val1151del
NM_001005862.2:c.3451_3453del , LRG_724t1:c.3451_3453del	NP_001005862.1:p.Val1151del
NM_001289936.1:c.3496_3498del , LRG_724t4:c.3496_3498del	NP_001276865.1:p.Val1166del
NM_001289937.1:c.*120_*122del	NP_001276866.1:n.*120_*122del
NM_004448.3:c.3541_3543del , LRG_724t2:c.3541_3543del	NP_004439.2:p.Val1181del
NR_110535.1:n.3865_3867del
XM_024450641.1:c.3679_3681del	XP_024306409.1:p.Val1227del
XM_024450642.1:c.3634_3636del	XP_024306410.1:p.Val1212del
XM_024450643.1:c.3589_3591del	XP_024306411.1:p.Val1197del
NM_001005862.3:c.3451_3453del	NP_001005862.1:p.Val1151del
NM_001289936.2:c.3496_3498del	NP_001276865.1:p.Val1166del
NM_001289937.2:c.*120_*122del	NP_001276866.1:n.*120_*122del
NM_001382782.1:c.3451_3453del	NP_001369711.1:p.Val1151del
NM_001382783.1:c.3451_3453del	NP_001369712.1:p.Val1151del
NM_001382784.1:c.3658_3660del	NP_001369713.1:p.Val1220del
NM_001382785.1:c.3643_3645del	NP_001369714.1:p.Val1215del
NM_001382786.1:c.3622_3624del	NP_001369715.1:p.Val1208del
NM_001382787.1:c.3616_3618del	NP_001369716.1:p.Val1206del
NM_001382788.1:c.3571_3573del	NP_001369717.1:p.Val1191del
NM_001382789.1:c.3562_3564del	NP_001369718.1:p.Val1188del
NM_001382790.1:c.3538_3540del	NP_001369719.1:p.Val1180del
NM_001382791.1:c.3532_3534del	NP_001369720.1:p.Val1178del
NM_001382792.1:c.3505_3507del	NP_001369721.1:p.Val1169del
NM_001382793.1:c.3499_3501del	NP_001369722.1:p.Val1167del
NM_001382794.1:c.3499_3501del	NP_001369723.1:p.Val1167del
NM_001382795.1:c.3493_3495del	NP_001369724.1:p.Val1165del
NM_001382796.1:c.3454_3456del	NP_001369725.1:p.Val1152del
NM_001382797.1:c.3442_3444del	NP_001369726.1:p.Val1148del
NM_001382798.1:c.3385_3387del	NP_001369727.1:p.Val1129del
NM_001382799.1:c.3361_3363del	NP_001369728.1:p.Val1121del
NM_001382800.1:c.3355_3357del	NP_001369729.1:p.Val1119del
NM_001382801.1:c.3337_3339del	NP_001369730.1:p.Val1113del
NM_001382802.1:c.3283_3285del	NP_001369731.1:p.Val1095del
NM_001382803.1:c.*120_*122del	NP_001369732.1:n.*120_*122del
NM_001382804.1:c.2713_2715del	NP_001369733.1:p.Val905del
NM_001382805.1:c.2590_2592del	NP_001369734.1:p.Val864del
NM_001382806.1:c.2503_2505del	NP_001369735.1:p.Val835del
NM_004448.4:c.3541_3543del MANE Select	NP_004439.2:p.Val1181del
NR_110535.2:n.3779_3781del