Canonical Allele Identifier: CA290443571

Gene: ERBB2

Linked Data

• dbSNP Id: rs948117801
• gnomAD v2: 17-37883820-CAG-C
• gnomAD v3: 17-39727567-CAG-C
• gnomAD v4: 17-39727567-CAG-C
• MyVariant Identifiers: chr17:g.37883821_37883822del (hg19) ; chr17:g.39727568_39727569del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39727573_39727574del , CM000679.2:g.39727573_39727574del	GRCh38
NC_000017.10:g.37883826_37883827del , CM000679.1:g.37883826_37883827del	GRCh37
NC_000017.9:g.35137352_35137353del	NCBI36
NG_007503.1:g.44434_44435del , LRG_724:g.44434_44435del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.3412+26_3412+27del MANE Select	ENSP00000269571.4:n.3412+26_3412+27del
ENST00000269571.9:c.3412+26_3412+27del	ENSP00000269571.4:n.3412+26_3412+27del
ENST00000406381.6:c.3322+26_3322+27del	ENSP00000385185.2:n.3322+26_3322+27del
ENST00000445658.6:c.2584+26_2584+27del	ENSP00000404047.2:n.2584+26_2584+27del
ENST00000541774.5:c.3367+26_3367+27del	ENSP00000446466.1:n.3367+26_3367+27del
ENST00000578373.5:c.*3202+26_*3202+27del	ENSP00000463427.1:n.*3202+26_*3202+27del
ENST00000584450.5:c.3160-116_3160-115del	ENSP00000463714.1:n.3160-116_3160-115del
ENST00000584601.5:c.3322+26_3322+27del	ENSP00000462438.1:n.3322+26_3322+27del
NM_001005862.2:c.3322+26_3322+27del , LRG_724t1:c.3322+26_3322+27del	NP_001005862.1:n.3322+26_3322+27del
NM_001289936.1:c.3367+26_3367+27del , LRG_724t4:c.3367+26_3367+27del	NP_001276865.1:n.3367+26_3367+27del
NM_001289937.1:c.3160-116_3160-115del	NP_001276866.1:n.3160-116_3160-115del
NM_004448.3:c.3412+26_3412+27del , LRG_724t2:c.3412+26_3412+27del	NP_004439.2:n.3412+26_3412+27del
NR_110535.1:n.3736+26_3736+27del
XM_024450641.1:c.3550+26_3550+27del	XP_024306409.1:n.3550+26_3550+27del
XM_024450642.1:c.3505+26_3505+27del	XP_024306410.1:n.3505+26_3505+27del
XM_024450643.1:c.3460+26_3460+27del	XP_024306411.1:n.3460+26_3460+27del
NM_001005862.3:c.3322+26_3322+27del	NP_001005862.1:n.3322+26_3322+27del
NM_001289936.2:c.3367+26_3367+27del	NP_001276865.1:n.3367+26_3367+27del
NM_001289937.2:c.3160-116_3160-115del	NP_001276866.1:n.3160-116_3160-115del
NM_001382782.1:c.3322+26_3322+27del	NP_001369711.1:n.3322+26_3322+27del
NM_001382783.1:c.3322+26_3322+27del	NP_001369712.1:n.3322+26_3322+27del
NM_001382784.1:c.3529+26_3529+27del	NP_001369713.1:n.3529+26_3529+27del
NM_001382785.1:c.3514+26_3514+27del	NP_001369714.1:n.3514+26_3514+27del
NM_001382786.1:c.3493+26_3493+27del	NP_001369715.1:n.3493+26_3493+27del
NM_001382787.1:c.3487+26_3487+27del	NP_001369716.1:n.3487+26_3487+27del
NM_001382788.1:c.3442+26_3442+27del	NP_001369717.1:n.3442+26_3442+27del
NM_001382789.1:c.3433+26_3433+27del	NP_001369718.1:n.3433+26_3433+27del
NM_001382790.1:c.3409+26_3409+27del	NP_001369719.1:n.3409+26_3409+27del
NM_001382791.1:c.3403+26_3403+27del	NP_001369720.1:n.3403+26_3403+27del
NM_001382792.1:c.3376+26_3376+27del	NP_001369721.1:n.3376+26_3376+27del
NM_001382793.1:c.3370+26_3370+27del	NP_001369722.1:n.3370+26_3370+27del
NM_001382794.1:c.3370+26_3370+27del	NP_001369723.1:n.3370+26_3370+27del
NM_001382795.1:c.3364+26_3364+27del	NP_001369724.1:n.3364+26_3364+27del
NM_001382796.1:c.3325+26_3325+27del	NP_001369725.1:n.3325+26_3325+27del
NM_001382797.1:c.3313+26_3313+27del	NP_001369726.1:n.3313+26_3313+27del
NM_001382798.1:c.3256+26_3256+27del	NP_001369727.1:n.3256+26_3256+27del
NM_001382799.1:c.3232+26_3232+27del	NP_001369728.1:n.3232+26_3232+27del
NM_001382800.1:c.3226+26_3226+27del	NP_001369729.1:n.3226+26_3226+27del
NM_001382801.1:c.3208+26_3208+27del	NP_001369730.1:n.3208+26_3208+27del
NM_001382802.1:c.3154+26_3154+27del	NP_001369731.1:n.3154+26_3154+27del
NM_001382803.1:c.3118-116_3118-115del	NP_001369732.1:n.3118-116_3118-115del
NM_001382804.1:c.2584+26_2584+27del	NP_001369733.1:n.2584+26_2584+27del
NM_001382805.1:c.2461+26_2461+27del	NP_001369734.1:n.2461+26_2461+27del
NM_001382806.1:c.2374+26_2374+27del	NP_001369735.1:n.2374+26_2374+27del
NM_004448.4:c.3412+26_3412+27del MANE Select	NP_004439.2:n.3412+26_3412+27del
NR_110535.2:n.3650+26_3650+27del