Canonical Allele Identifier: CA2691805225

Gene: ENG

Linked Data

• gnomAD v4: 9-127815215-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815216_127815217del , CM000671.2:g.127815216_127815217del	GRCh38
NC_000009.11:g.130577495_130577496del , CM000671.1:g.130577495_130577496del	GRCh37
NC_000009.10:g.129617316_129617317del	NCBI36
NG_009551.1:g.44552_44553del , LRG_589:g.44552_44553del
NG_023245.1:g.17342_17343del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*465_*466del	ENSP00000479015.1:n.*465_*466del
ENST00000373203.9:c.*465_*466del MANE Select	ENSP00000362299.4:n.*465_*466del
ENST00000344849.4:c.*700_*701del	ENSP00000341917.3:n.*700_*701del
ENST00000373203.8:c.*465_*466del	ENSP00000362299.4:n.*465_*466del
ENST00000480266.5:c.*465_*466del	ENSP00000479015.1:n.*465_*466del
NM_000118.3:c.*700_*701del , LRG_589t1:c.*700_*701del	NP_000109.1:n.*700_*701del
NM_001114753.2:c.*465_*466del , LRG_589t2:c.*465_*466del	NP_001108225.1:n.*465_*466del
NM_001278138.1:c.*465_*466del	NP_001265067.1:n.*465_*466del
NM_001114753.3:c.*465_*466del MANE Select	NP_001108225.1:n.*465_*466del
NM_001278138.2:c.*465_*466del	NP_001265067.1:n.*465_*466del