Canonical Allele Identifier: CA2695211321
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127826540_127826541del , CM000671.2:g.127826540_127826541del GRCh38
NC_000009.11:g.130588819_130588820del , CM000671.1:g.130588819_130588820del GRCh37
NC_000009.10:g.129628640_129628641del NCBI36
NG_009551.1:g.33231_33232del , LRG_589:g.33231_33232del

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.-52_-51del ENSP00000479015.1:n.-52_-51del
ENST00000373203.9:c.495_496del MANE Select ENSP00000362299.4:p.Gln166GlufsTer?
ENST00000344849.4:c.495_496del ENSP00000341917.3:p.Gln166GlufsTer?
ENST00000373203.8:c.495_496del ENSP00000362299.4:p.Gln166GlufsTer?
ENST00000462196.1:n.395_396del
ENST00000480266.5:c.-52_-51del ENSP00000479015.1:n.-52_-51del
NM_000118.3:c.495_496del , LRG_589t1:c.495_496del NP_000109.1:p.Gln166GlufsTer?
NM_001114753.2:c.495_496del , LRG_589t2:c.495_496del NP_001108225.1:p.Gln166GlufsTer?
NM_001278138.1:c.-52_-51del NP_001265067.1:n.-52_-51del
XR_001746952.2:n.82+1082_82+1083del
NM_001114753.3:c.495_496del MANE Select NP_001108225.1:p.Gln166GlufsTer?
NM_001278138.2:c.-52_-51del NP_001265067.1:n.-52_-51del