Canonical Allele Identifier: CA2573053100

Gene: ENG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824318dup , CM000671.2:g.127824318dup	GRCh38
NC_000009.11:g.130586597dup , CM000671.1:g.130586597dup	GRCh37
NC_000009.10:g.129626418dup	NCBI36
NG_009551.1:g.35453dup , LRG_589:g.35453dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.576dup	ENSP00000479015.1:p.Glu193ArgfsTer21
ENST00000373203.9:c.1122dup MANE Select	ENSP00000362299.4:p.Glu375ArgfsTer21
ENST00000344849.4:c.1122dup	ENSP00000341917.3:p.Glu375ArgfsTer21
ENST00000373203.8:c.1122dup	ENSP00000362299.4:p.Glu375ArgfsTer21
ENST00000480266.5:c.576dup	ENSP00000479015.1:p.Glu193ArgfsTer21
ENST00000486329.1:n.90dup
NM_000118.3:c.1122dup , LRG_589t1:c.1122dup	NP_000109.1:p.Glu375ArgfsTer21
NM_001114753.2:c.1122dup , LRG_589t2:c.1122dup	NP_001108225.1:p.Glu375ArgfsTer21
NM_001278138.1:c.576dup	NP_001265067.1:p.Glu193ArgfsTer21
NM_001114753.3:c.1122dup MANE Select	NP_001108225.1:p.Glu375ArgfsTer21
NM_001278138.2:c.576dup	NP_001265067.1:p.Glu193ArgfsTer21