Canonical Allele Identifier: CA658656042

Gene: ENG

Linked Data

• ClinVar Variation Id: 458348
• ClinVar RCV Id: RCV002231268
• dbSNP Id: rs1554810507

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127826636_127826637delinsTT , CM000671.2:g.127826636_127826637delinsTT	GRCh38
NC_000009.11:g.130588915_130588916delinsTT , CM000671.1:g.130588915_130588916delinsTT	GRCh37
NC_000009.10:g.129628736_129628737delinsTT	NCBI36
NG_009551.1:g.33132_33133delinsAA , LRG_589:g.33132_33133delinsAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000480266.6:c.-151_-150delinsAA	ENSP00000479015.1:n.-151_-150delinsAA
ENST00000373203.9:c.396_397delinsAA MANE Select	ENSP00000362299.4:p.Val133Ile
ENST00000344849.4:c.396_397delinsAA	ENSP00000341917.3:p.Val133Ile
ENST00000373203.8:c.396_397delinsAA	ENSP00000362299.4:p.Val133Ile
ENST00000462196.1:n.296_297delinsAA
ENST00000480266.5:c.-151_-150delinsAA	ENSP00000479015.1:n.-151_-150delinsAA
NM_000118.3:c.396_397delinsAA , LRG_589t1:c.396_397delinsAA	NP_000109.1:p.Val133Ile
NM_001114753.2:c.396_397delinsAA , LRG_589t2:c.396_397delinsAA	NP_001108225.1:p.Val133Ile
NM_001278138.1:c.-151_-150delinsAA	NP_001265067.1:n.-151_-150delinsAA
XR_001746952.2:n.82+1178_82+1179delinsTT
NM_001114753.3:c.396_397delinsAA MANE Select	NP_001108225.1:p.Val133Ile
NM_001278138.2:c.-151_-150delinsAA	NP_001265067.1:n.-151_-150delinsAA