Canonical Allele Identifier: CA2573143990

Gene: ENG

Linked Data

• ClinVar Variation Id: 1442387
• ClinVar RCV Id: RCV001969846
• dbSNP Id: rs2131886094

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824441_127824442dup , CM000671.2:g.127824441_127824442dup	GRCh38
NC_000009.11:g.130586720_130586721dup , CM000671.1:g.130586720_130586721dup	GRCh37
NC_000009.10:g.129626541_129626542dup	NCBI36
NG_009551.1:g.35327_35328dup , LRG_589:g.35327_35328dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.450_451dup	ENSP00000479015.1:p.Arg151IlefsTer27
ENST00000373203.9:c.996_997dup MANE Select	ENSP00000362299.4:p.Arg333IlefsTer27
ENST00000344849.4:c.996_997dup	ENSP00000341917.3:p.Arg333IlefsTer27
ENST00000373203.8:c.996_997dup	ENSP00000362299.4:p.Arg333IlefsTer27
ENST00000480266.5:c.450_451dup	ENSP00000479015.1:p.Arg151IlefsTer27
NM_000118.3:c.996_997dup , LRG_589t1:c.996_997dup	NP_000109.1:p.Arg333IlefsTer27
NM_001114753.2:c.996_997dup , LRG_589t2:c.996_997dup	NP_001108225.1:p.Arg333IlefsTer27
NM_001278138.1:c.450_451dup	NP_001265067.1:p.Arg151IlefsTer27
NM_001114753.3:c.996_997dup MANE Select	NP_001108225.1:p.Arg333IlefsTer27
NM_001278138.2:c.450_451dup	NP_001265067.1:p.Arg151IlefsTer27