Canonical Allele Identifier: CA2499219638
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs2131886076

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824432_127824433insAC , CM000671.2:g.127824432_127824433insAC GRCh38
NC_000009.11:g.130586711_130586712insAC , CM000671.1:g.130586711_130586712insAC GRCh37
NC_000009.10:g.129626532_129626533insAC NCBI36
NG_009551.1:g.35336_35337insGT , LRG_589:g.35336_35337insGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.459_460insGT ENSP00000479015.1:p.Thr154ValfsTer24
ENST00000373203.9:c.1005_1006insGT MANE Select ENSP00000362299.4:p.Thr336ValfsTer24
ENST00000344849.4:c.1005_1006insGT ENSP00000341917.3:p.Thr336ValfsTer24
ENST00000373203.8:c.1005_1006insGT ENSP00000362299.4:p.Thr336ValfsTer24
ENST00000480266.5:c.459_460insGT ENSP00000479015.1:p.Thr154ValfsTer24
NM_000118.3:c.1005_1006insGT , LRG_589t1:c.1005_1006insGT NP_000109.1:p.Thr336ValfsTer24
NM_001114753.2:c.1005_1006insGT , LRG_589t2:c.1005_1006insGT NP_001108225.1:p.Thr336ValfsTer24
NM_001278138.1:c.459_460insGT NP_001265067.1:p.Thr154ValfsTer24
NM_001114753.3:c.1005_1006insGT MANE Select NP_001108225.1:p.Thr336ValfsTer24
NM_001278138.2:c.459_460insGT NP_001265067.1:p.Thr154ValfsTer24