Canonical Allele Identifier: CA2691805231

Gene: ENG

Linked Data

• gnomAD v4: 9-127815218-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815219_127815220del , CM000671.2:g.127815219_127815220del	GRCh38
NC_000009.11:g.130577498_130577499del , CM000671.1:g.130577498_130577499del	GRCh37
NC_000009.10:g.129617319_129617320del	NCBI36
NG_009551.1:g.44549_44550del , LRG_589:g.44549_44550del
NG_023245.1:g.17345_17346del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*462_*463del	ENSP00000479015.1:n.*462_*463del
ENST00000373203.9:c.*462_*463del MANE Select	ENSP00000362299.4:n.*462_*463del
ENST00000344849.4:c.*697_*698del	ENSP00000341917.3:n.*697_*698del
ENST00000373203.8:c.*462_*463del	ENSP00000362299.4:n.*462_*463del
ENST00000480266.5:c.*462_*463del	ENSP00000479015.1:n.*462_*463del
NM_000118.3:c.*697_*698del , LRG_589t1:c.*697_*698del	NP_000109.1:n.*697_*698del
NM_001114753.2:c.*462_*463del , LRG_589t2:c.*462_*463del	NP_001108225.1:n.*462_*463del
NM_001278138.1:c.*462_*463del	NP_001265067.1:n.*462_*463del
NM_001114753.3:c.*462_*463del MANE Select	NP_001108225.1:n.*462_*463del
NM_001278138.2:c.*462_*463del	NP_001265067.1:n.*462_*463del