Canonical Allele Identifier: CA1879975378
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825617C= , CM000671.2:g.127825617C= GRCh38
NC_000009.11:g.130587896C= , CM000671.1:g.130587896C= GRCh37
NC_000009.10:g.129627717C= NCBI36
NG_009551.1:g.34152G= , LRG_589:g.34152G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.143+78G= ENSP00000479015.1:n.143+78G=
ENST00000373203.9:c.689+78G= MANE Select ENSP00000362299.4:n.689+78G=
ENST00000344849.4:c.689+78G= ENSP00000341917.3:n.689+78G=
ENST00000373203.8:c.689+78G= ENSP00000362299.4:n.689+78G=
ENST00000480266.5:c.143+78G= ENSP00000479015.1:n.143+78G=
NM_000118.3:c.689+78G= , LRG_589t1:c.689+78G= NP_000109.1:n.689+78G=
NM_001114753.2:c.689+78G= , LRG_589t2:c.689+78G= NP_001108225.1:n.689+78G=
NM_001278138.1:c.143+78G= NP_001265067.1:n.143+78G=
XR_001746952.2:n.82+159C=
NM_001114753.3:c.689+78G= MANE Select NP_001108225.1:n.689+78G=
NM_001278138.2:c.143+78G= NP_001265067.1:n.143+78G=