Canonical Allele Identifier: CA2580617810

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39724757-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724760_39724761del , CM000679.2:g.39724760_39724761del	GRCh38
NC_000017.10:g.37881013_37881014del , CM000679.1:g.37881013_37881014del	GRCh37
NC_000017.9:g.35134539_35134540del	NCBI36
NG_007503.1:g.41621_41622del , LRG_724:g.41621_41622del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2342_2343del MANE Select	ENSP00000269571.4:p.Tyr781CysfsTer?
ENST00000269571.9:c.2342_2343del	ENSP00000269571.4:p.Tyr781CysfsTer?
ENST00000406381.6:c.2252_2253del	ENSP00000385185.2:p.Tyr751CysfsTer?
ENST00000445658.6:c.1514_1515del	ENSP00000404047.2:p.Tyr505CysfsTer?
ENST00000541774.5:c.2297_2298del	ENSP00000446466.1:p.Tyr766CysfsTer?
ENST00000578373.5:c.*2132_*2133del	ENSP00000463427.1:n.*2132_*2133del
ENST00000580074.1:c.448_449del
ENST00000583038.5:n.3476_3477del
ENST00000584450.5:c.2342_2343del	ENSP00000463714.1:p.Tyr781CysfsTer?
ENST00000584601.5:c.2252_2253del	ENSP00000462438.1:p.Tyr751CysfsTer?
NM_001005862.2:c.2252_2253del , LRG_724t1:c.2252_2253del	NP_001005862.1:p.Tyr751CysfsTer?
NM_001289936.1:c.2297_2298del , LRG_724t4:c.2297_2298del	NP_001276865.1:p.Tyr766CysfsTer?
NM_001289937.1:c.2342_2343del	NP_001276866.1:p.Tyr781CysfsTer?
NM_004448.3:c.2342_2343del , LRG_724t2:c.2342_2343del	NP_004439.2:p.Tyr781CysfsTer?
NR_110535.1:n.2666_2667del
XM_024450641.1:c.2480_2481del	XP_024306409.1:p.Tyr827CysfsTer?
XM_024450642.1:c.2435_2436del	XP_024306410.1:p.Tyr812CysfsTer?
XM_024450643.1:c.2390_2391del	XP_024306411.1:p.Tyr797CysfsTer?
NM_001005862.3:c.2252_2253del	NP_001005862.1:p.Tyr751CysfsTer?
NM_001289936.2:c.2297_2298del	NP_001276865.1:p.Tyr766CysfsTer?
NM_001289937.2:c.2342_2343del	NP_001276866.1:p.Tyr781CysfsTer?
NM_001382782.1:c.2252_2253del	NP_001369711.1:p.Tyr751CysfsTer?
NM_001382783.1:c.2252_2253del	NP_001369712.1:p.Tyr751CysfsTer?
NM_001382784.1:c.2459_2460del	NP_001369713.1:p.Tyr820CysfsTer?
NM_001382785.1:c.2444_2445del	NP_001369714.1:p.Tyr815CysfsTer?
NM_001382786.1:c.2423_2424del	NP_001369715.1:p.Tyr808CysfsTer?
NM_001382787.1:c.2417_2418del	NP_001369716.1:p.Tyr806CysfsTer?
NM_001382788.1:c.2372_2373del	NP_001369717.1:p.Tyr791CysfsTer?
NM_001382789.1:c.2363_2364del	NP_001369718.1:p.Tyr788CysfsTer?
NM_001382790.1:c.2339_2340del	NP_001369719.1:p.Tyr780CysfsTer?
NM_001382791.1:c.2333_2334del	NP_001369720.1:p.Tyr778CysfsTer?
NM_001382792.1:c.2306_2307del	NP_001369721.1:p.Tyr769CysfsTer?
NM_001382793.1:c.2300_2301del	NP_001369722.1:p.Tyr767CysfsTer?
NM_001382794.1:c.2300_2301del	NP_001369723.1:p.Tyr767CysfsTer?
NM_001382795.1:c.2294_2295del	NP_001369724.1:p.Tyr765CysfsTer?
NM_001382796.1:c.2342_2343del	NP_001369725.1:p.Tyr781CysfsTer?
NM_001382797.1:c.2243_2244del	NP_001369726.1:p.Tyr748CysfsTer?
NM_001382798.1:c.2342_2343del	NP_001369727.1:p.Tyr781CysfsTer?
NM_001382799.1:c.2162_2163del	NP_001369728.1:p.Tyr721CysfsTer?
NM_001382800.1:c.2308-289_2308-288del	NP_001369729.1:n.2308-289_2308-288del
NM_001382801.1:c.2294_2295del	NP_001369730.1:p.Tyr765CysfsTer?
NM_001382802.1:c.2084_2085del	NP_001369731.1:p.Tyr695CysfsTer?
NM_001382803.1:c.2300_2301del	NP_001369732.1:p.Tyr767CysfsTer?
NM_001382804.1:c.1514_1515del	NP_001369733.1:p.Tyr505CysfsTer?
NM_001382805.1:c.2208+1100_2208+1101del	NP_001369734.1:n.2208+1100_2208+1101del
NM_001382806.1:c.1304_1305del	NP_001369735.1:p.Tyr435CysfsTer?
NM_004448.4:c.2342_2343del MANE Select	NP_004439.2:p.Tyr781CysfsTer?
NR_110535.2:n.2580_2581del