Canonical Allele Identifier: CA1879980133
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815213_127815217delinsCAGTT , CM000671.2:g.127815213_127815217delinsCAGTT GRCh38
NC_000009.11:g.130577492_130577496delinsCAGTT , CM000671.1:g.130577492_130577496delinsCAGTT GRCh37
NC_000009.10:g.129617313_129617317delinsCAGTT NCBI36
NG_009551.1:g.44552_44556delinsAACTG , LRG_589:g.44552_44556delinsAACTG
NG_023245.1:g.17339_17343delinsCAGTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.*465_*469delinsAACTG ENSP00000479015.1:n.*465_*469delinsAACTG
ENST00000373203.9:c.*465_*469delinsAACTG MANE Select ENSP00000362299.4:n.*465_*469delinsAACTG
ENST00000344849.4:c.*700_*704delinsAACTG ENSP00000341917.3:n.*700_*704delinsAACTG
ENST00000373203.8:c.*465_*469delinsAACTG ENSP00000362299.4:n.*465_*469delinsAACTG
ENST00000480266.5:c.*465_*469delinsAACTG ENSP00000479015.1:n.*465_*469delinsAACTG
NM_000118.3:c.*700_*704delinsAACTG , LRG_589t1:c.*700_*704delinsAACTG NP_000109.1:n.*700_*704delinsAACTG
NM_001114753.2:c.*465_*469delinsAACTG , LRG_589t2:c.*465_*469delinsAACTG NP_001108225.1:n.*465_*469delinsAACTG
NM_001278138.1:c.*465_*469delinsAACTG NP_001265067.1:n.*465_*469delinsAACTG
NM_001114753.3:c.*465_*469delinsAACTG MANE Select NP_001108225.1:n.*465_*469delinsAACTG
NM_001278138.2:c.*465_*469delinsAACTG NP_001265067.1:n.*465_*469delinsAACTG