Canonical Allele Identifier: CA983630360

Gene: ERBB2

Linked Data

• gnomAD v3: 17-39724272-A-ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
• gnomAD v4: 17-39724272-A-ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39724288_39724289insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000679.2:g.39724288_39724289insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000017.10:g.37880541_37880542insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000679.1:g.37880541_37880542insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000017.9:g.35134067_35134068insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_007503.1:g.41149_41150insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724:g.41149_41150insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000269571.4:n.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTT...
ENST00000269571.9:c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000269571.4:n.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTT...
ENST00000406381.6:c.2217+278_2217+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000385185.2:n.2217+278_2217+279insTTTTTTTTTTTTTTTTTTTTT...
ENST00000445658.6:c.1479+278_1479+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000404047.2:n.1479+278_1479+279insTTTTTTTTTTTTTTTTTTTTT...
ENST00000541774.5:c.2262+278_2262+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000446466.1:n.2262+278_2262+279insTTTTTTTTTTTTTTTTTTTTT...
ENST00000578373.5:c.*2097+278_*2097+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000463427.1:n.*2097+278_*2097+279insTTTTTTTTTTTTTTTTTTT...
ENST00000580074.1:c.413+278_413+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000583038.5:n.3441+278_3441+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000584450.5:c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000463714.1:n.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTT...
ENST00000584601.5:c.2217+278_2217+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000462438.1:n.2217+278_2217+279insTTTTTTTTTTTTTTTTTTTTT...
NM_001005862.2:c.2217+278_2217+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t1:c.2217+278_2217+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001005862.1:n.2217+278_2217+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001289936.1:c.2262+278_2262+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t4:c.2262+278_2262+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001276865.1:n.2262+278_2262+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001289937.1:c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001276866.1:n.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_004448.3:c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_724t2:c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_004439.2:n.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NR_110535.1:n.2631+278_2631+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
XM_024450641.1:c.2445+278_2445+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024306409.1:n.2445+278_2445+279insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_024450642.1:c.2400+278_2400+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024306410.1:n.2400+278_2400+279insTTTTTTTTTTTTTTTTTTTTTTTT...
XM_024450643.1:c.2355+278_2355+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024306411.1:n.2355+278_2355+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001005862.3:c.2217+278_2217+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001005862.1:n.2217+278_2217+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001289936.2:c.2262+278_2262+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001276865.1:n.2262+278_2262+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001289937.2:c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001276866.1:n.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382782.1:c.2217+278_2217+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369711.1:n.2217+278_2217+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382783.1:c.2217+278_2217+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369712.1:n.2217+278_2217+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382784.1:c.2424+278_2424+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369713.1:n.2424+278_2424+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382785.1:c.2409+278_2409+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369714.1:n.2409+278_2409+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382786.1:c.2388+278_2388+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369715.1:n.2388+278_2388+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382787.1:c.2382+278_2382+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369716.1:n.2382+278_2382+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382788.1:c.2337+278_2337+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369717.1:n.2337+278_2337+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382789.1:c.2328+278_2328+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369718.1:n.2328+278_2328+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382790.1:c.2304+278_2304+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369719.1:n.2304+278_2304+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382791.1:c.2298+278_2298+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369720.1:n.2298+278_2298+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382792.1:c.2271+278_2271+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369721.1:n.2271+278_2271+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382793.1:c.2265+278_2265+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369722.1:n.2265+278_2265+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382794.1:c.2265+278_2265+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369723.1:n.2265+278_2265+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382795.1:c.2259+278_2259+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369724.1:n.2259+278_2259+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382796.1:c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369725.1:n.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382797.1:c.2209-438_2209-437insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369726.1:n.2209-438_2209-437insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382798.1:c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369727.1:n.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382799.1:c.2127+278_2127+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369728.1:n.2127+278_2127+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382800.1:c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369729.1:n.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382801.1:c.2259+278_2259+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369730.1:n.2259+278_2259+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382802.1:c.2049+278_2049+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369731.1:n.2049+278_2049+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382803.1:c.2265+278_2265+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369732.1:n.2265+278_2265+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382804.1:c.1479+278_1479+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369733.1:n.1479+278_1479+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382805.1:c.2208+628_2208+629insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369734.1:n.2208+628_2208+629insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_001382806.1:c.1269+278_1269+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_001369735.1:n.1269+278_1269+279insTTTTTTTTTTTTTTTTTTTTTTTT...
NM_004448.4:c.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_004439.2:n.2307+278_2307+279insTTTTTTTTTTTTTTTTTTTTTTTTTTT...
NR_110535.2:n.2545+278_2545+279insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT