Canonical Allele Identifier: CA2691805340

Gene: ENG

Linked Data

• gnomAD v4: 9-127815311-CCTGGCTGGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815317_127815325del , CM000671.2:g.127815317_127815325del	GRCh38
NC_000009.11:g.130577596_130577604del , CM000671.1:g.130577596_130577604del	GRCh37
NC_000009.10:g.129617417_129617425del	NCBI36
NG_009551.1:g.44449_44457del , LRG_589:g.44449_44457del
NG_023245.1:g.17443_17451del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.*362_*370del	ENSP00000479015.1:n.*362_*370del
ENST00000373203.9:c.*362_*370del MANE Select	ENSP00000362299.4:n.*362_*370del
ENST00000344849.4:c.*597_*605del	ENSP00000341917.3:n.*597_*605del
ENST00000373203.8:c.*362_*370del	ENSP00000362299.4:n.*362_*370del
ENST00000480266.5:c.*362_*370del	ENSP00000479015.1:n.*362_*370del
NM_000118.3:c.*597_*605del , LRG_589t1:c.*597_*605del	NP_000109.1:n.*597_*605del
NM_001114753.2:c.*362_*370del , LRG_589t2:c.*362_*370del	NP_001108225.1:n.*362_*370del
NM_001278138.1:c.*362_*370del	NP_001265067.1:n.*362_*370del
NM_001114753.3:c.*362_*370del MANE Select	NP_001108225.1:n.*362_*370del
NM_001278138.2:c.*362_*370del	NP_001265067.1:n.*362_*370del