Canonical Allele Identifier: CA2637628416

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39727309-CCTGACACTAGGGCTGGAGCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727314_39727335del , CM000679.2:g.39727314_39727335del	GRCh38
NC_000017.10:g.37883567_37883588del , CM000679.1:g.37883567_37883588del	GRCh37
NC_000017.9:g.35137093_35137114del	NCBI36
NG_007503.1:g.44175_44196del , LRG_724:g.44175_44196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3179_3200del MANE Select	ENSP00000269571.4:p.Thr1060LysfsTer?
ENST00000269571.9:c.3179_3200del	ENSP00000269571.4:p.Thr1060LysfsTer?
ENST00000406381.6:c.3089_3110del	ENSP00000385185.2:p.Thr1030LysfsTer?
ENST00000445658.6:c.2351_2372del	ENSP00000404047.2:p.Thr784LysfsTer?
ENST00000541774.5:c.3134_3155del	ENSP00000446466.1:p.Thr1045LysfsTer?
ENST00000578373.5:c.*2969_*2990del	ENSP00000463427.1:n.*2969_*2990del
ENST00000584450.5:c.3159+311_3159+332del	ENSP00000463714.1:n.3159+311_3159+332del
ENST00000584601.5:c.3089_3110del	ENSP00000462438.1:p.Thr1030LysfsTer?
NM_001005862.2:c.3089_3110del , LRG_724t1:c.3089_3110del	NP_001005862.1:p.Thr1030LysfsTer?
NM_001289936.1:c.3134_3155del , LRG_724t4:c.3134_3155del	NP_001276865.1:p.Thr1045LysfsTer?
NM_001289937.1:c.3159+311_3159+332del	NP_001276866.1:n.3159+311_3159+332del
NM_004448.3:c.3179_3200del , LRG_724t2:c.3179_3200del	NP_004439.2:p.Thr1060LysfsTer?
NR_110535.1:n.3503_3524del
XM_024450641.1:c.3317_3338del	XP_024306409.1:p.Thr1106LysfsTer?
XM_024450642.1:c.3272_3293del	XP_024306410.1:p.Thr1091LysfsTer?
XM_024450643.1:c.3227_3248del	XP_024306411.1:p.Thr1076LysfsTer?
NM_001005862.3:c.3089_3110del	NP_001005862.1:p.Thr1030LysfsTer?
NM_001289936.2:c.3134_3155del	NP_001276865.1:p.Thr1045LysfsTer?
NM_001289937.2:c.3159+311_3159+332del	NP_001276866.1:n.3159+311_3159+332del
NM_001382782.1:c.3089_3110del	NP_001369711.1:p.Thr1030LysfsTer?
NM_001382783.1:c.3089_3110del	NP_001369712.1:p.Thr1030LysfsTer?
NM_001382784.1:c.3296_3317del	NP_001369713.1:p.Thr1099LysfsTer?
NM_001382785.1:c.3281_3302del	NP_001369714.1:p.Thr1094LysfsTer?
NM_001382786.1:c.3260_3281del	NP_001369715.1:p.Thr1087LysfsTer?
NM_001382787.1:c.3254_3275del	NP_001369716.1:p.Thr1085LysfsTer?
NM_001382788.1:c.3209_3230del	NP_001369717.1:p.Thr1070LysfsTer?
NM_001382789.1:c.3200_3221del	NP_001369718.1:p.Thr1067LysfsTer?
NM_001382790.1:c.3176_3197del	NP_001369719.1:p.Thr1059LysfsTer?
NM_001382791.1:c.3170_3191del	NP_001369720.1:p.Thr1057LysfsTer?
NM_001382792.1:c.3143_3164del	NP_001369721.1:p.Thr1048LysfsTer?
NM_001382793.1:c.3137_3158del	NP_001369722.1:p.Thr1046LysfsTer?
NM_001382794.1:c.3137_3158del	NP_001369723.1:p.Thr1046LysfsTer?
NM_001382795.1:c.3131_3152del	NP_001369724.1:p.Thr1044LysfsTer?
NM_001382796.1:c.3092_3113del	NP_001369725.1:p.Thr1031LysfsTer?
NM_001382797.1:c.3080_3101del	NP_001369726.1:p.Thr1027LysfsTer?
NM_001382798.1:c.3023_3044del	NP_001369727.1:p.Thr1008LysfsTer?
NM_001382799.1:c.2999_3020del	NP_001369728.1:p.Thr1000LysfsTer?
NM_001382800.1:c.2993_3014del	NP_001369729.1:p.Thr998LysfsTer?
NM_001382801.1:c.2975_2996del	NP_001369730.1:p.Thr992LysfsTer?
NM_001382802.1:c.2921_2942del	NP_001369731.1:p.Thr974LysfsTer?
NM_001382803.1:c.3117+311_3117+332del	NP_001369732.1:n.3117+311_3117+332del
NM_001382804.1:c.2351_2372del	NP_001369733.1:p.Thr784LysfsTer?
NM_001382805.1:c.2228_2249del	NP_001369734.1:p.Thr743LysfsTer?
NM_001382806.1:c.2141_2162del	NP_001369735.1:p.Thr714LysfsTer?
NM_004448.4:c.3179_3200del MANE Select	NP_004439.2:p.Thr1060LysfsTer?
NR_110535.2:n.3417_3438del