Canonical Allele Identifier: CA2576254903

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39727525-CCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727526_39727527del , CM000679.2:g.39727526_39727527del	GRCh38
NC_000017.10:g.37883779_37883780del , CM000679.1:g.37883779_37883780del	GRCh37
NC_000017.9:g.35137305_35137306del	NCBI36
NG_007503.1:g.44387_44388del , LRG_724:g.44387_44388del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3391_3392del MANE Select	ENSP00000269571.4:p.Leu1131AspfsTer7
ENST00000269571.9:c.3391_3392del	ENSP00000269571.4:p.Leu1131AspfsTer7
ENST00000406381.6:c.3301_3302del	ENSP00000385185.2:p.Leu1101AspfsTer7
ENST00000445658.6:c.2563_2564del	ENSP00000404047.2:p.Leu855AspfsTer7
ENST00000541774.5:c.3346_3347del	ENSP00000446466.1:p.Leu1116AspfsTer7
ENST00000578373.5:c.*3181_*3182del	ENSP00000463427.1:n.*3181_*3182del
ENST00000584450.5:c.3160-163_3160-162del	ENSP00000463714.1:n.3160-163_3160-162del
ENST00000584601.5:c.3301_3302del	ENSP00000462438.1:p.Leu1101AspfsTer7
NM_001005862.2:c.3301_3302del , LRG_724t1:c.3301_3302del	NP_001005862.1:p.Leu1101AspfsTer7
NM_001289936.1:c.3346_3347del , LRG_724t4:c.3346_3347del	NP_001276865.1:p.Leu1116AspfsTer7
NM_001289937.1:c.3160-163_3160-162del	NP_001276866.1:n.3160-163_3160-162del
NM_004448.3:c.3391_3392del , LRG_724t2:c.3391_3392del	NP_004439.2:p.Leu1131AspfsTer7
NR_110535.1:n.3715_3716del
XM_024450641.1:c.3529_3530del	XP_024306409.1:p.Leu1177AspfsTer7
XM_024450642.1:c.3484_3485del	XP_024306410.1:p.Leu1162AspfsTer7
XM_024450643.1:c.3439_3440del	XP_024306411.1:p.Leu1147AspfsTer7
NM_001005862.3:c.3301_3302del	NP_001005862.1:p.Leu1101AspfsTer7
NM_001289936.2:c.3346_3347del	NP_001276865.1:p.Leu1116AspfsTer7
NM_001289937.2:c.3160-163_3160-162del	NP_001276866.1:n.3160-163_3160-162del
NM_001382782.1:c.3301_3302del	NP_001369711.1:p.Leu1101AspfsTer7
NM_001382783.1:c.3301_3302del	NP_001369712.1:p.Leu1101AspfsTer7
NM_001382784.1:c.3508_3509del	NP_001369713.1:p.Leu1170AspfsTer7
NM_001382785.1:c.3493_3494del	NP_001369714.1:p.Leu1165AspfsTer7
NM_001382786.1:c.3472_3473del	NP_001369715.1:p.Leu1158AspfsTer7
NM_001382787.1:c.3466_3467del	NP_001369716.1:p.Leu1156AspfsTer7
NM_001382788.1:c.3421_3422del	NP_001369717.1:p.Leu1141AspfsTer7
NM_001382789.1:c.3412_3413del	NP_001369718.1:p.Leu1138AspfsTer7
NM_001382790.1:c.3388_3389del	NP_001369719.1:p.Leu1130AspfsTer7
NM_001382791.1:c.3382_3383del	NP_001369720.1:p.Leu1128AspfsTer7
NM_001382792.1:c.3355_3356del	NP_001369721.1:p.Leu1119AspfsTer7
NM_001382793.1:c.3349_3350del	NP_001369722.1:p.Leu1117AspfsTer7
NM_001382794.1:c.3349_3350del	NP_001369723.1:p.Leu1117AspfsTer7
NM_001382795.1:c.3343_3344del	NP_001369724.1:p.Leu1115AspfsTer7
NM_001382796.1:c.3304_3305del	NP_001369725.1:p.Leu1102AspfsTer7
NM_001382797.1:c.3292_3293del	NP_001369726.1:p.Leu1098AspfsTer7
NM_001382798.1:c.3235_3236del	NP_001369727.1:p.Leu1079AspfsTer7
NM_001382799.1:c.3211_3212del	NP_001369728.1:p.Leu1071AspfsTer7
NM_001382800.1:c.3205_3206del	NP_001369729.1:p.Leu1069AspfsTer7
NM_001382801.1:c.3187_3188del	NP_001369730.1:p.Leu1063AspfsTer7
NM_001382802.1:c.3133_3134del	NP_001369731.1:p.Leu1045AspfsTer7
NM_001382803.1:c.3118-163_3118-162del	NP_001369732.1:n.3118-163_3118-162del
NM_001382804.1:c.2563_2564del	NP_001369733.1:p.Leu855AspfsTer7
NM_001382805.1:c.2440_2441del	NP_001369734.1:p.Leu814AspfsTer7
NM_001382806.1:c.2353_2354del	NP_001369735.1:p.Leu785AspfsTer7
NM_004448.4:c.3391_3392del MANE Select	NP_004439.2:p.Leu1131AspfsTer7
NR_110535.2:n.3629_3630del