Canonical Allele Identifier: CA2580079602

Gene: ENG

Linked Data

• ClinVar Variation Id: 1748505
• ClinVar RCV Id: RCV002344834

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127819964_127819967dup , CM000671.2:g.127819964_127819967dup	GRCh38
NC_000009.11:g.130582243_130582246dup , CM000671.1:g.130582243_130582246dup	GRCh37
NC_000009.10:g.129622064_129622067dup	NCBI36
NG_009551.1:g.39802_39805dup , LRG_589:g.39802_39805dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.659_662dup	ENSP00000479015.1:p.Phe221LeufsTer23
ENST00000373203.9:c.1205_1208dup MANE Select	ENSP00000362299.4:p.Phe403LeufsTer23
ENST00000344849.4:c.1205_1208dup	ENSP00000341917.3:p.Phe403LeufsTer23
ENST00000373203.8:c.1205_1208dup	ENSP00000362299.4:p.Phe403LeufsTer23
ENST00000480266.5:c.659_662dup	ENSP00000479015.1:p.Phe221LeufsTer23
ENST00000486329.1:n.173_176dup
NM_000118.3:c.1205_1208dup , LRG_589t1:c.1205_1208dup	NP_000109.1:p.Phe403LeufsTer23
NM_001114753.2:c.1205_1208dup , LRG_589t2:c.1205_1208dup	NP_001108225.1:p.Phe403LeufsTer23
NM_001278138.1:c.659_662dup	NP_001265067.1:p.Phe221LeufsTer23
NR_136302.1:n.1569-1231_1569-1228dup
NM_001114753.3:c.1205_1208dup MANE Select	NP_001108225.1:p.Phe403LeufsTer23
NM_001278138.2:c.659_662dup	NP_001265067.1:p.Phe221LeufsTer23