Canonical Allele Identifier: CA1879980361
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815317_127815318delinsTG , CM000671.2:g.127815317_127815318delinsTG GRCh38
NC_000009.11:g.130577596_130577597delinsTG , CM000671.1:g.130577596_130577597delinsTG GRCh37
NC_000009.10:g.129617417_129617418delinsTG NCBI36
NG_009551.1:g.44451_44452delinsCA , LRG_589:g.44451_44452delinsCA
NG_023245.1:g.17443_17444delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.*364_*365delinsCA ENSP00000479015.1:n.*364_*365delinsCA
ENST00000373203.9:c.*364_*365delinsCA MANE Select ENSP00000362299.4:n.*364_*365delinsCA
ENST00000344849.4:c.*599_*600delinsCA ENSP00000341917.3:n.*599_*600delinsCA
ENST00000373203.8:c.*364_*365delinsCA ENSP00000362299.4:n.*364_*365delinsCA
ENST00000480266.5:c.*364_*365delinsCA ENSP00000479015.1:n.*364_*365delinsCA
NM_000118.3:c.*599_*600delinsCA , LRG_589t1:c.*599_*600delinsCA NP_000109.1:n.*599_*600delinsCA
NM_001114753.2:c.*364_*365delinsCA , LRG_589t2:c.*364_*365delinsCA NP_001108225.1:n.*364_*365delinsCA
NM_001278138.1:c.*364_*365delinsCA NP_001265067.1:n.*364_*365delinsCA
NM_001114753.3:c.*364_*365delinsCA MANE Select NP_001108225.1:n.*364_*365delinsCA
NM_001278138.2:c.*364_*365delinsCA NP_001265067.1:n.*364_*365delinsCA