Canonical Allele Identifier: CA2637621994

Gene: ERBB2

Linked Data

• gnomAD v4: 17-39725018-AGAAGGTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.39725019_39725026del , CM000679.2:g.39725019_39725026del	GRCh38
NC_000017.10:g.37881272_37881279del , CM000679.1:g.37881272_37881279del	GRCh37
NC_000017.9:g.35134798_35134805del	NCBI36
NG_007503.1:g.41880_41887del , LRG_724:g.41880_41887del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269571.10:c.2494-30_2494-23del MANE Select	ENSP00000269571.4:n.2494-30_2494-23del
ENST00000269571.9:c.2494-30_2494-23del	ENSP00000269571.4:n.2494-30_2494-23del
ENST00000406381.6:c.2404-30_2404-23del	ENSP00000385185.2:n.2404-30_2404-23del
ENST00000445658.6:c.1666-30_1666-23del	ENSP00000404047.2:n.1666-30_1666-23del
ENST00000541774.5:c.2449-30_2449-23del	ENSP00000446466.1:n.2449-30_2449-23del
ENST00000578373.5:c.*2284-30_*2284-23del	ENSP00000463427.1:n.*2284-30_*2284-23del
ENST00000580074.1:c.600-30_600-23del
ENST00000583038.5:n.3628-30_3628-23del
ENST00000584450.5:c.2494-30_2494-23del	ENSP00000463714.1:n.2494-30_2494-23del
ENST00000584601.5:c.2404-30_2404-23del	ENSP00000462438.1:n.2404-30_2404-23del
NM_001005862.2:c.2404-30_2404-23del , LRG_724t1:c.2404-30_2404-23del	NP_001005862.1:n.2404-30_2404-23del
NM_001289936.1:c.2449-30_2449-23del , LRG_724t4:c.2449-30_2449-23del	NP_001276865.1:n.2449-30_2449-23del
NM_001289937.1:c.2494-30_2494-23del	NP_001276866.1:n.2494-30_2494-23del
NM_004448.3:c.2494-30_2494-23del , LRG_724t2:c.2494-30_2494-23del	NP_004439.2:n.2494-30_2494-23del
NR_110535.1:n.2818-30_2818-23del
XM_024450641.1:c.2632-30_2632-23del	XP_024306409.1:n.2632-30_2632-23del
XM_024450642.1:c.2587-30_2587-23del	XP_024306410.1:n.2587-30_2587-23del
XM_024450643.1:c.2542-30_2542-23del	XP_024306411.1:n.2542-30_2542-23del
NM_001005862.3:c.2404-30_2404-23del	NP_001005862.1:n.2404-30_2404-23del
NM_001289936.2:c.2449-30_2449-23del	NP_001276865.1:n.2449-30_2449-23del
NM_001289937.2:c.2494-30_2494-23del	NP_001276866.1:n.2494-30_2494-23del
NM_001382782.1:c.2404-30_2404-23del	NP_001369711.1:n.2404-30_2404-23del
NM_001382783.1:c.2404-30_2404-23del	NP_001369712.1:n.2404-30_2404-23del
NM_001382784.1:c.2611-30_2611-23del	NP_001369713.1:n.2611-30_2611-23del
NM_001382785.1:c.2596-30_2596-23del	NP_001369714.1:n.2596-30_2596-23del
NM_001382786.1:c.2575-30_2575-23del	NP_001369715.1:n.2575-30_2575-23del
NM_001382787.1:c.2569-30_2569-23del	NP_001369716.1:n.2569-30_2569-23del
NM_001382788.1:c.2524-30_2524-23del	NP_001369717.1:n.2524-30_2524-23del
NM_001382789.1:c.2515-30_2515-23del	NP_001369718.1:n.2515-30_2515-23del
NM_001382790.1:c.2491-30_2491-23del	NP_001369719.1:n.2491-30_2491-23del
NM_001382791.1:c.2485-30_2485-23del	NP_001369720.1:n.2485-30_2485-23del
NM_001382792.1:c.2458-30_2458-23del	NP_001369721.1:n.2458-30_2458-23del
NM_001382793.1:c.2452-30_2452-23del	NP_001369722.1:n.2452-30_2452-23del
NM_001382794.1:c.2452-30_2452-23del	NP_001369723.1:n.2452-30_2452-23del
NM_001382795.1:c.2446-30_2446-23del	NP_001369724.1:n.2446-30_2446-23del
NM_001382796.1:c.2494-30_2494-23del	NP_001369725.1:n.2494-30_2494-23del
NM_001382797.1:c.2395-30_2395-23del	NP_001369726.1:n.2395-30_2395-23del
NM_001382798.1:c.2493+108_2493+115del	NP_001369727.1:n.2493+108_2493+115del
NM_001382799.1:c.2314-30_2314-23del	NP_001369728.1:n.2314-30_2314-23del
NM_001382800.1:c.2308-30_2308-23del	NP_001369729.1:n.2308-30_2308-23del
NM_001382801.1:c.2445+108_2445+115del	NP_001369730.1:n.2445+108_2445+115del
NM_001382802.1:c.2236-30_2236-23del	NP_001369731.1:n.2236-30_2236-23del
NM_001382803.1:c.2452-30_2452-23del	NP_001369732.1:n.2452-30_2452-23del
NM_001382804.1:c.1666-30_1666-23del	NP_001369733.1:n.1666-30_1666-23del
NM_001382805.1:c.2208+1359_2208+1366del	NP_001369734.1:n.2208+1359_2208+1366del
NM_001382806.1:c.1456-30_1456-23del	NP_001369735.1:n.1456-30_1456-23del
NM_004448.4:c.2494-30_2494-23del MANE Select	NP_004439.2:n.2494-30_2494-23del
NR_110535.2:n.2732-30_2732-23del