Canonical Allele Identifier: CA2840533201

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127815791del , CM000671.2:g.127815791del	GRCh38
NC_000009.11:g.130578070del , CM000671.1:g.130578070del	GRCh37
NC_000009.10:g.129617891del	NCBI36
NG_009551.1:g.43980del , LRG_589:g.43980del
NG_023245.1:g.17917del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.1324del	ENSP00000479015.1:p.Glu442SerfsTer?
ENST00000373203.9:c.1870del MANE Select	ENSP00000362299.4:p.Glu624SerfsTer?
ENST00000344849.4:c.*128del	ENSP00000341917.3:n.*128del
ENST00000373203.8:c.1870del	ENSP00000362299.4:p.Glu624SerfsTer?
ENST00000480266.5:c.1324del	ENSP00000479015.1:p.Glu442SerfsTer?
NM_000118.3:c.*128del , LRG_589t1:c.*128del	NP_000109.1:n.*128del
NM_001114753.2:c.1870del , LRG_589t2:c.1870del	NP_001108225.1:p.Glu624SerfsTer?
NM_001278138.1:c.1324del	NP_001265067.1:p.Glu442SerfsTer?
NM_001114753.3:c.1870del MANE Select	NP_001108225.1:p.Glu624SerfsTer?
NM_001278138.2:c.1324del	NP_001265067.1:p.Glu442SerfsTer?