Canonical Allele Identifier: CA2560124429
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825030C>A , CM000671.2:g.127825030C>A GRCh38
NC_000009.11:g.130587309C>A , CM000671.1:g.130587309C>A GRCh37
NC_000009.10:g.129627130C>A NCBI36
NG_009551.1:g.34739G>T , LRG_589:g.34739G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.271-56G>T ENSP00000479015.1:n.271-56G>T
ENST00000373203.9:c.817-56G>T MANE Select ENSP00000362299.4:n.817-56G>T
ENST00000344849.4:c.817-56G>T ENSP00000341917.3:n.817-56G>T
ENST00000373203.8:c.817-56G>T ENSP00000362299.4:n.817-56G>T
ENST00000480266.5:c.271-56G>T ENSP00000479015.1:n.271-56G>T
NM_000118.3:c.817-56G>T , LRG_589t1:c.817-56G>T NP_000109.1:n.817-56G>T
NM_001114753.2:c.817-56G>T , LRG_589t2:c.817-56G>T NP_001108225.1:n.817-56G>T
NM_001278138.1:c.271-56G>T NP_001265067.1:n.271-56G>T
NM_001114753.3:c.817-56G>T MANE Select NP_001108225.1:n.817-56G>T
NM_001278138.2:c.271-56G>T NP_001265067.1:n.271-56G>T