Canonical Allele Identifier: CA2695211339
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127829729del , CM000671.2:g.127829729del GRCh38
NC_000009.11:g.130592008del , CM000671.1:g.130592008del GRCh37
NC_000009.10:g.129631829del NCBI36
NG_009551.1:g.30041del , LRG_589:g.30041del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.-228del ENSP00000479015.1:n.-228del
ENST00000373203.9:c.319del MANE Select ENSP00000362299.4:p.Leu107CysfsTer?
ENST00000344849.4:c.319del ENSP00000341917.3:p.Leu107CysfsTer?
ENST00000373203.8:c.319del ENSP00000362299.4:p.Leu107CysfsTer?
ENST00000462196.1:n.77del
ENST00000480266.5:c.-228del ENSP00000479015.1:n.-228del
NM_000118.3:c.319del , LRG_589t1:c.319del NP_000109.1:p.Leu107CysfsTer?
NM_001114753.2:c.319del , LRG_589t2:c.319del NP_001108225.1:p.Leu107CysfsTer?
NM_001278138.1:c.-228del NP_001265067.1:n.-228del
XR_001746952.2:n.83-2669del
NM_001114753.3:c.319del MANE Select NP_001108225.1:p.Leu107CysfsTer?
NM_001278138.2:c.-228del NP_001265067.1:n.-228del