Canonical Allele Identifier: CA2637621645

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39724821-GCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724823_39724824del , CM000679.2:g.39724823_39724824del	GRCh38
NC_000017.10:g.37881076_37881077del , CM000679.1:g.37881076_37881077del	GRCh37
NC_000017.9:g.35134602_35134603del	NCBI36
NG_007503.1:g.41684_41685del , LRG_724:g.41684_41685del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2405_2406del MANE Select	ENSP00000269571.4:p.Pro802LeufsTer?
ENST00000269571.9:c.2405_2406del	ENSP00000269571.4:p.Pro802LeufsTer?
ENST00000406381.6:c.2315_2316del	ENSP00000385185.2:p.Pro772LeufsTer?
ENST00000445658.6:c.1577_1578del	ENSP00000404047.2:p.Pro526LeufsTer?
ENST00000541774.5:c.2360_2361del	ENSP00000446466.1:p.Pro787LeufsTer?
ENST00000578373.5:c.*2195_*2196del	ENSP00000463427.1:n.*2195_*2196del
ENST00000580074.1:c.511_512del
ENST00000583038.5:n.3539_3540del
ENST00000584450.5:c.2405_2406del	ENSP00000463714.1:p.Pro802LeufsTer?
ENST00000584601.5:c.2315_2316del	ENSP00000462438.1:p.Pro772LeufsTer?
NM_001005862.2:c.2315_2316del , LRG_724t1:c.2315_2316del	NP_001005862.1:p.Pro772LeufsTer?
NM_001289936.1:c.2360_2361del , LRG_724t4:c.2360_2361del	NP_001276865.1:p.Pro787LeufsTer?
NM_001289937.1:c.2405_2406del	NP_001276866.1:p.Pro802LeufsTer?
NM_004448.3:c.2405_2406del , LRG_724t2:c.2405_2406del	NP_004439.2:p.Pro802LeufsTer?
NR_110535.1:n.2729_2730del
XM_024450641.1:c.2543_2544del	XP_024306409.1:p.Pro848LeufsTer?
XM_024450642.1:c.2498_2499del	XP_024306410.1:p.Pro833LeufsTer?
XM_024450643.1:c.2453_2454del	XP_024306411.1:p.Pro818LeufsTer?
NM_001005862.3:c.2315_2316del	NP_001005862.1:p.Pro772LeufsTer?
NM_001289936.2:c.2360_2361del	NP_001276865.1:p.Pro787LeufsTer?
NM_001289937.2:c.2405_2406del	NP_001276866.1:p.Pro802LeufsTer?
NM_001382782.1:c.2315_2316del	NP_001369711.1:p.Pro772LeufsTer?
NM_001382783.1:c.2315_2316del	NP_001369712.1:p.Pro772LeufsTer?
NM_001382784.1:c.2522_2523del	NP_001369713.1:p.Pro841LeufsTer?
NM_001382785.1:c.2507_2508del	NP_001369714.1:p.Pro836LeufsTer?
NM_001382786.1:c.2486_2487del	NP_001369715.1:p.Pro829LeufsTer?
NM_001382787.1:c.2480_2481del	NP_001369716.1:p.Pro827LeufsTer?
NM_001382788.1:c.2435_2436del	NP_001369717.1:p.Pro812LeufsTer?
NM_001382789.1:c.2426_2427del	NP_001369718.1:p.Pro809LeufsTer?
NM_001382790.1:c.2402_2403del	NP_001369719.1:p.Pro801LeufsTer?
NM_001382791.1:c.2396_2397del	NP_001369720.1:p.Pro799LeufsTer?
NM_001382792.1:c.2369_2370del	NP_001369721.1:p.Pro790LeufsTer?
NM_001382793.1:c.2363_2364del	NP_001369722.1:p.Pro788LeufsTer?
NM_001382794.1:c.2363_2364del	NP_001369723.1:p.Pro788LeufsTer?
NM_001382795.1:c.2357_2358del	NP_001369724.1:p.Pro786LeufsTer?
NM_001382796.1:c.2405_2406del	NP_001369725.1:p.Pro802LeufsTer?
NM_001382797.1:c.2306_2307del	NP_001369726.1:p.Pro769LeufsTer?
NM_001382798.1:c.2405_2406del	NP_001369727.1:p.Pro802LeufsTer?
NM_001382799.1:c.2225_2226del	NP_001369728.1:p.Pro742LeufsTer?
NM_001382800.1:c.2308-226_2308-225del	NP_001369729.1:n.2308-226_2308-225del
NM_001382801.1:c.2357_2358del	NP_001369730.1:p.Pro786LeufsTer?
NM_001382802.1:c.2147_2148del	NP_001369731.1:p.Pro716LeufsTer?
NM_001382803.1:c.2363_2364del	NP_001369732.1:p.Pro788LeufsTer?
NM_001382804.1:c.1577_1578del	NP_001369733.1:p.Pro526LeufsTer?
NM_001382805.1:c.2208+1163_2208+1164del	NP_001369734.1:n.2208+1163_2208+1164del
NM_001382806.1:c.1367_1368del	NP_001369735.1:p.Pro456LeufsTer?
NM_004448.4:c.2405_2406del MANE Select	NP_004439.2:p.Pro802LeufsTer?
NR_110535.2:n.2643_2644del