Canonical Allele Identifier: CA2695211242
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824430_127824431insC , CM000671.2:g.127824430_127824431insC GRCh38
NC_000009.11:g.130586709_130586710insC , CM000671.1:g.130586709_130586710insC GRCh37
NC_000009.10:g.129626530_129626531insC NCBI36
NG_009551.1:g.35338_35339insG , LRG_589:g.35338_35339insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.461_462insG ENSP00000479015.1:p.Ser155LeufsTer15
ENST00000373203.9:c.1007_1008insG MANE Select ENSP00000362299.4:p.Ser337LeufsTer15
ENST00000344849.4:c.1007_1008insG ENSP00000341917.3:p.Ser337LeufsTer15
ENST00000373203.8:c.1007_1008insG ENSP00000362299.4:p.Ser337LeufsTer15
ENST00000480266.5:c.461_462insG ENSP00000479015.1:p.Ser155LeufsTer15
NM_000118.3:c.1007_1008insG , LRG_589t1:c.1007_1008insG NP_000109.1:p.Ser337LeufsTer15
NM_001114753.2:c.1007_1008insG , LRG_589t2:c.1007_1008insG NP_001108225.1:p.Ser337LeufsTer15
NM_001278138.1:c.461_462insG NP_001265067.1:p.Ser155LeufsTer15
NM_001114753.3:c.1007_1008insG MANE Select NP_001108225.1:p.Ser337LeufsTer15
NM_001278138.2:c.461_462insG NP_001265067.1:p.Ser155LeufsTer15