Canonical Allele Identifier: CA2499219640

Gene: ENG

Linked Data

• ClinVar Variation Id: 1076004
• ClinVar RCV Id: RCV001389737
• dbSNP Id: rs2131887087

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127824925_127824929dup , CM000671.2:g.127824925_127824929dup	GRCh38
NC_000009.11:g.130587204_130587208dup , CM000671.1:g.130587204_130587208dup	GRCh37
NC_000009.10:g.129627025_129627029dup	NCBI36
NG_009551.1:g.34841_34845dup , LRG_589:g.34841_34845dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.317_321dup	ENSP00000479015.1:p.Phe108ValfsTer?
ENST00000373203.9:c.863_867dup MANE Select	ENSP00000362299.4:p.Phe290ValfsTer?
ENST00000344849.4:c.863_867dup	ENSP00000341917.3:p.Phe290ValfsTer?
ENST00000373203.8:c.863_867dup	ENSP00000362299.4:p.Phe290ValfsTer?
ENST00000480266.5:c.317_321dup	ENSP00000479015.1:p.Phe108ValfsTer?
NM_000118.3:c.863_867dup , LRG_589t1:c.863_867dup	NP_000109.1:p.Phe290ValfsTer?
NM_001114753.2:c.863_867dup , LRG_589t2:c.863_867dup	NP_001108225.1:p.Phe290ValfsTer?
NM_001278138.1:c.317_321dup	NP_001265067.1:p.Phe108ValfsTer?
NM_001114753.3:c.863_867dup MANE Select	NP_001108225.1:p.Phe290ValfsTer?
NM_001278138.2:c.317_321dup	NP_001265067.1:p.Phe108ValfsTer?