Canonical Allele Identifier: CA2499219644

Gene: ENG

Linked Data

• ClinVar Variation Id: 1076967
• ClinVar RCV Id: RCV001391026
• dbSNP Id: rs2131890631

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826629dup , CM000671.2:g.127826629dup	GRCh38
NC_000009.11:g.130588908dup , CM000671.1:g.130588908dup	GRCh37
NC_000009.10:g.129628729dup	NCBI36
NG_009551.1:g.33141dup , LRG_589:g.33141dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.-142dup	ENSP00000479015.1:n.-142dup
ENST00000373203.9:c.405dup MANE Select	ENSP00000362299.4:p.Thr136HisfsTer13
ENST00000344849.4:c.405dup	ENSP00000341917.3:p.Thr136HisfsTer13
ENST00000373203.8:c.405dup	ENSP00000362299.4:p.Thr136HisfsTer13
ENST00000462196.1:n.305dup
ENST00000480266.5:c.-142dup	ENSP00000479015.1:n.-142dup
NM_000118.3:c.405dup , LRG_589t1:c.405dup	NP_000109.1:p.Thr136HisfsTer13
NM_001114753.2:c.405dup , LRG_589t2:c.405dup	NP_001108225.1:p.Thr136HisfsTer13
NM_001278138.1:c.-142dup	NP_001265067.1:n.-142dup
XR_001746952.2:n.82+1171dup
NM_001114753.3:c.405dup MANE Select	NP_001108225.1:p.Thr136HisfsTer13
NM_001278138.2:c.-142dup	NP_001265067.1:n.-142dup