Canonical Allele Identifier: CA2637628475

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39727341-A-AGGCCCCCAGGTCTCCACTGGCACCCTCCGAAGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727342_39727377dup , CM000679.2:g.39727342_39727377dup	GRCh38
NC_000017.10:g.37883595_37883630dup , CM000679.1:g.37883595_37883630dup	GRCh37
NC_000017.9:g.35137121_35137156dup	NCBI36
NG_007503.1:g.44203_44238dup , LRG_724:g.44203_44238dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3207_3242dup MANE Select	ENSP00000269571.4:p.Ala1081_Gly1082insAlaProArgSerProLeuAlaPr...
ENST00000269571.9:c.3207_3242dup	ENSP00000269571.4:p.Ala1081_Gly1082insAlaProArgSerProLeuAlaPr...
ENST00000406381.6:c.3117_3152dup	ENSP00000385185.2:p.Ala1051_Gly1052insAlaProArgSerProLeuAlaPr...
ENST00000445658.6:c.2379_2414dup	ENSP00000404047.2:p.Ala805_Gly806insAlaProArgSerProLeuAlaProS...
ENST00000541774.5:c.3162_3197dup	ENSP00000446466.1:p.Ala1066_Gly1067insAlaProArgSerProLeuAlaPr...
ENST00000578373.5:c.*2997_*3032dup	ENSP00000463427.1:n.*2997_*3032dup
ENST00000584450.5:c.3159+339_3160-312dup	ENSP00000463714.1:n.3159+339_3160-312dup
ENST00000584601.5:c.3117_3152dup	ENSP00000462438.1:p.Ala1051_Gly1052insAlaProArgSerProLeuAlaPr...
NM_001005862.2:c.3117_3152dup , LRG_724t1:c.3117_3152dup	NP_001005862.1:p.Ala1051_Gly1052insAlaProArgSerProLeuAlaProSe...
NM_001289936.1:c.3162_3197dup , LRG_724t4:c.3162_3197dup	NP_001276865.1:p.Ala1066_Gly1067insAlaProArgSerProLeuAlaProSe...
NM_001289937.1:c.3159+339_3160-312dup	NP_001276866.1:n.3159+339_3160-312dup
NM_004448.3:c.3207_3242dup , LRG_724t2:c.3207_3242dup	NP_004439.2:p.Ala1081_Gly1082insAlaProArgSerProLeuAlaProSerGl...
NR_110535.1:n.3531_3566dup
XM_024450641.1:c.3345_3380dup	XP_024306409.1:p.Ala1127_Gly1128insAlaProArgSerProLeuAlaProSe...
XM_024450642.1:c.3300_3335dup	XP_024306410.1:p.Ala1112_Gly1113insAlaProArgSerProLeuAlaProSe...
XM_024450643.1:c.3255_3290dup	XP_024306411.1:p.Ala1097_Gly1098insAlaProArgSerProLeuAlaProSe...
NM_001005862.3:c.3117_3152dup	NP_001005862.1:p.Ala1051_Gly1052insAlaProArgSerProLeuAlaProSe...
NM_001289936.2:c.3162_3197dup	NP_001276865.1:p.Ala1066_Gly1067insAlaProArgSerProLeuAlaProSe...
NM_001289937.2:c.3159+339_3160-312dup	NP_001276866.1:n.3159+339_3160-312dup
NM_001382782.1:c.3117_3152dup	NP_001369711.1:p.Ala1051_Gly1052insAlaProArgSerProLeuAlaProSe...
NM_001382783.1:c.3117_3152dup	NP_001369712.1:p.Ala1051_Gly1052insAlaProArgSerProLeuAlaProSe...
NM_001382784.1:c.3324_3359dup	NP_001369713.1:p.Ala1120_Gly1121insAlaProArgSerProLeuAlaProSe...
NM_001382785.1:c.3309_3344dup	NP_001369714.1:p.Ala1115_Gly1116insAlaProArgSerProLeuAlaProSe...
NM_001382786.1:c.3288_3323dup	NP_001369715.1:p.Ala1108_Gly1109insAlaProArgSerProLeuAlaProSe...
NM_001382787.1:c.3282_3317dup	NP_001369716.1:p.Ala1106_Gly1107insAlaProArgSerProLeuAlaProSe...
NM_001382788.1:c.3237_3272dup	NP_001369717.1:p.Ala1091_Gly1092insAlaProArgSerProLeuAlaProSe...
NM_001382789.1:c.3228_3263dup	NP_001369718.1:p.Ala1088_Gly1089insAlaProArgSerProLeuAlaProSe...
NM_001382790.1:c.3204_3239dup	NP_001369719.1:p.Ala1080_Gly1081insAlaProArgSerProLeuAlaProSe...
NM_001382791.1:c.3198_3233dup	NP_001369720.1:p.Ala1078_Gly1079insAlaProArgSerProLeuAlaProSe...
NM_001382792.1:c.3171_3206dup	NP_001369721.1:p.Ala1069_Gly1070insAlaProArgSerProLeuAlaProSe...
NM_001382793.1:c.3165_3200dup	NP_001369722.1:p.Ala1067_Gly1068insAlaProArgSerProLeuAlaProSe...
NM_001382794.1:c.3165_3200dup	NP_001369723.1:p.Ala1067_Gly1068insAlaProArgSerProLeuAlaProSe...
NM_001382795.1:c.3159_3194dup	NP_001369724.1:p.Ala1065_Gly1066insAlaProArgSerProLeuAlaProSe...
NM_001382796.1:c.3120_3155dup	NP_001369725.1:p.Ala1052_Gly1053insAlaProArgSerProLeuAlaProSe...
NM_001382797.1:c.3108_3143dup	NP_001369726.1:p.Ala1048_Gly1049insAlaProArgSerProLeuAlaProSe...
NM_001382798.1:c.3051_3086dup	NP_001369727.1:p.Ala1029_Gly1030insAlaProArgSerProLeuAlaProSe...
NM_001382799.1:c.3027_3062dup	NP_001369728.1:p.Ala1021_Gly1022insAlaProArgSerProLeuAlaProSe...
NM_001382800.1:c.3021_3056dup	NP_001369729.1:p.Ala1019_Gly1020insAlaProArgSerProLeuAlaProSe...
NM_001382801.1:c.3003_3038dup	NP_001369730.1:p.Ala1013_Gly1014insAlaProArgSerProLeuAlaProSe...
NM_001382802.1:c.2949_2984dup	NP_001369731.1:p.Ala995_Gly996insAlaProArgSerProLeuAlaProSerG...
NM_001382803.1:c.3117+339_3118-312dup	NP_001369732.1:n.3117+339_3118-312dup
NM_001382804.1:c.2379_2414dup	NP_001369733.1:p.Ala805_Gly806insAlaProArgSerProLeuAlaProSerG...
NM_001382805.1:c.2256_2291dup	NP_001369734.1:p.Ala764_Gly765insAlaProArgSerProLeuAlaProSerG...
NM_001382806.1:c.2169_2204dup	NP_001369735.1:p.Ala735_Gly736insAlaProArgSerProLeuAlaProSerG...
NM_004448.4:c.3207_3242dup MANE Select	NP_004439.2:p.Ala1081_Gly1082insAlaProArgSerProLeuAlaProSerGl...
NR_110535.2:n.3445_3480dup