Canonical Allele Identifier: CA2691808696

Gene: ENG

Linked Data

• gnomAD v4: 9-127824886-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824891del , CM000671.2:g.127824891del	GRCh38
NC_000009.11:g.130587170del , CM000671.1:g.130587170del	GRCh37
NC_000009.10:g.129626991del	NCBI36
NG_009551.1:g.34882del , LRG_589:g.34882del

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.358del	ENSP00000479015.1:p.Glu120ArgfsTer?
ENST00000373203.9:c.904del MANE Select	ENSP00000362299.4:p.Glu302ArgfsTer?
ENST00000344849.4:c.904del	ENSP00000341917.3:p.Glu302ArgfsTer?
ENST00000373203.8:c.904del	ENSP00000362299.4:p.Glu302ArgfsTer?
ENST00000480266.5:c.358del	ENSP00000479015.1:p.Glu120ArgfsTer?
NM_000118.3:c.904del , LRG_589t1:c.904del	NP_000109.1:p.Glu302ArgfsTer?
NM_001114753.2:c.904del , LRG_589t2:c.904del	NP_001108225.1:p.Glu302ArgfsTer?
NM_001278138.1:c.358del	NP_001265067.1:p.Glu120ArgfsTer?
NM_001114753.3:c.904del MANE Select	NP_001108225.1:p.Glu302ArgfsTer?
NM_001278138.2:c.358del	NP_001265067.1:p.Glu120ArgfsTer?