Canonical Allele Identifier: CA2580079674

Gene: ENG

Linked Data

• ClinVar Variation Id: 2030831
• ClinVar RCV Id: RCV002871995

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127825349_127825351del , CM000671.2:g.127825349_127825351del	GRCh38
NC_000009.11:g.130587628_130587630del , CM000671.1:g.130587628_130587630del	GRCh37
NC_000009.10:g.129627449_129627451del	NCBI36
NG_009551.1:g.34419_34421del , LRG_589:g.34419_34421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480266.6:c.151_153del	ENSP00000479015.1:p.Thr51del
ENST00000373203.9:c.697_699del MANE Select	ENSP00000362299.4:p.Thr233del
ENST00000344849.4:c.697_699del	ENSP00000341917.3:p.Thr233del
ENST00000373203.8:c.697_699del	ENSP00000362299.4:p.Thr233del
ENST00000480266.5:c.151_153del	ENSP00000479015.1:p.Thr51del
NM_000118.3:c.697_699del , LRG_589t1:c.697_699del	NP_000109.1:p.Thr233del
NM_001114753.2:c.697_699del , LRG_589t2:c.697_699del	NP_001108225.1:p.Thr233del
NM_001278138.1:c.151_153del	NP_001265067.1:p.Thr51del
NM_001114753.3:c.697_699del MANE Select	NP_001108225.1:p.Thr233del
NM_001278138.2:c.151_153del	NP_001265067.1:p.Thr51del