Canonical Allele Identifier: CA626209672

Gene: ERBB2

Linked Data

• dbSNP Id: rs1351665671
• gnomAD v2: 17-37883698-CAT-C
• gnomAD v4: 17-39727445-CAT-C
• MyVariant Identifiers: chr17:g.37883699_37883700del (hg19) ; chr17:g.39727446_39727447del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727446_39727447del , CM000679.2:g.39727446_39727447del	GRCh38
NC_000017.10:g.37883699_37883700del , CM000679.1:g.37883699_37883700del	GRCh37
NC_000017.9:g.35137225_35137226del	NCBI36
NG_007503.1:g.44307_44308del , LRG_724:g.44307_44308del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3311_3312del MANE Select	ENSP00000269571.4:p.His1104ArgfsTer10
ENST00000269571.9:c.3311_3312del	ENSP00000269571.4:p.His1104ArgfsTer10
ENST00000406381.6:c.3221_3222del	ENSP00000385185.2:p.His1074ArgfsTer10
ENST00000445658.6:c.2483_2484del	ENSP00000404047.2:p.His828ArgfsTer10
ENST00000541774.5:c.3266_3267del	ENSP00000446466.1:p.His1089ArgfsTer10
ENST00000578373.5:c.*3101_*3102del	ENSP00000463427.1:n.*3101_*3102del
ENST00000584450.5:c.3160-243_3160-242del	ENSP00000463714.1:n.3160-243_3160-242del
ENST00000584601.5:c.3221_3222del	ENSP00000462438.1:p.His1074ArgfsTer10
NM_001005862.2:c.3221_3222del , LRG_724t1:c.3221_3222del	NP_001005862.1:p.His1074ArgfsTer10
NM_001289936.1:c.3266_3267del , LRG_724t4:c.3266_3267del	NP_001276865.1:p.His1089ArgfsTer10
NM_001289937.1:c.3160-243_3160-242del	NP_001276866.1:n.3160-243_3160-242del
NM_004448.3:c.3311_3312del , LRG_724t2:c.3311_3312del	NP_004439.2:p.His1104ArgfsTer10
NR_110535.1:n.3635_3636del
XM_024450641.1:c.3449_3450del	XP_024306409.1:p.His1150ArgfsTer10
XM_024450642.1:c.3404_3405del	XP_024306410.1:p.His1135ArgfsTer10
XM_024450643.1:c.3359_3360del	XP_024306411.1:p.His1120ArgfsTer10
NM_001005862.3:c.3221_3222del	NP_001005862.1:p.His1074ArgfsTer10
NM_001289936.2:c.3266_3267del	NP_001276865.1:p.His1089ArgfsTer10
NM_001289937.2:c.3160-243_3160-242del	NP_001276866.1:n.3160-243_3160-242del
NM_001382782.1:c.3221_3222del	NP_001369711.1:p.His1074ArgfsTer10
NM_001382783.1:c.3221_3222del	NP_001369712.1:p.His1074ArgfsTer10
NM_001382784.1:c.3428_3429del	NP_001369713.1:p.His1143ArgfsTer10
NM_001382785.1:c.3413_3414del	NP_001369714.1:p.His1138ArgfsTer10
NM_001382786.1:c.3392_3393del	NP_001369715.1:p.His1131ArgfsTer10
NM_001382787.1:c.3386_3387del	NP_001369716.1:p.His1129ArgfsTer10
NM_001382788.1:c.3341_3342del	NP_001369717.1:p.His1114ArgfsTer10
NM_001382789.1:c.3332_3333del	NP_001369718.1:p.His1111ArgfsTer10
NM_001382790.1:c.3308_3309del	NP_001369719.1:p.His1103ArgfsTer10
NM_001382791.1:c.3302_3303del	NP_001369720.1:p.His1101ArgfsTer10
NM_001382792.1:c.3275_3276del	NP_001369721.1:p.His1092ArgfsTer10
NM_001382793.1:c.3269_3270del	NP_001369722.1:p.His1090ArgfsTer10
NM_001382794.1:c.3269_3270del	NP_001369723.1:p.His1090ArgfsTer10
NM_001382795.1:c.3263_3264del	NP_001369724.1:p.His1088ArgfsTer10
NM_001382796.1:c.3224_3225del	NP_001369725.1:p.His1075ArgfsTer10
NM_001382797.1:c.3212_3213del	NP_001369726.1:p.His1071ArgfsTer10
NM_001382798.1:c.3155_3156del	NP_001369727.1:p.His1052ArgfsTer10
NM_001382799.1:c.3131_3132del	NP_001369728.1:p.His1044ArgfsTer10
NM_001382800.1:c.3125_3126del	NP_001369729.1:p.His1042ArgfsTer10
NM_001382801.1:c.3107_3108del	NP_001369730.1:p.His1036ArgfsTer10
NM_001382802.1:c.3053_3054del	NP_001369731.1:p.His1018ArgfsTer10
NM_001382803.1:c.3118-243_3118-242del	NP_001369732.1:n.3118-243_3118-242del
NM_001382804.1:c.2483_2484del	NP_001369733.1:p.His828ArgfsTer10
NM_001382805.1:c.2360_2361del	NP_001369734.1:p.His787ArgfsTer10
NM_001382806.1:c.2273_2274del	NP_001369735.1:p.His758ArgfsTer10
NM_004448.4:c.3311_3312del MANE Select	NP_004439.2:p.His1104ArgfsTer10
NR_110535.2:n.3549_3550del