Canonical Allele Identifier: CA2695211276
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824955_127824957del , CM000671.2:g.127824955_127824957del GRCh38
NC_000009.11:g.130587234_130587236del , CM000671.1:g.130587234_130587236del GRCh37
NC_000009.10:g.129627055_129627057del NCBI36
NG_009551.1:g.34813_34815del , LRG_589:g.34813_34815del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.289_291del ENSP00000479015.1:p.Phe97del
ENST00000373203.9:c.835_837del MANE Select ENSP00000362299.4:p.Phe279del
ENST00000344849.4:c.835_837del ENSP00000341917.3:p.Phe279del
ENST00000373203.8:c.835_837del ENSP00000362299.4:p.Phe279del
ENST00000480266.5:c.289_291del ENSP00000479015.1:p.Phe97del
NM_000118.3:c.835_837del , LRG_589t1:c.835_837del NP_000109.1:p.Phe279del
NM_001114753.2:c.835_837del , LRG_589t2:c.835_837del NP_001108225.1:p.Phe279del
NM_001278138.1:c.289_291del NP_001265067.1:p.Phe97del
NM_001114753.3:c.835_837del MANE Select NP_001108225.1:p.Phe279del
NM_001278138.2:c.289_291del NP_001265067.1:p.Phe97del