Canonical Allele Identifier: CA2695211282
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127819987del , CM000671.2:g.127819987del GRCh38
NC_000009.11:g.130582266del , CM000671.1:g.130582266del GRCh37
NC_000009.10:g.129622087del NCBI36
NG_009551.1:g.39783del , LRG_589:g.39783del

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.640del ENSP00000479015.1:p.Ala214GlnfsTer25
ENST00000373203.9:c.1186del MANE Select ENSP00000362299.4:p.Ala396GlnfsTer25
ENST00000344849.4:c.1186del ENSP00000341917.3:p.Ala396GlnfsTer25
ENST00000373203.8:c.1186del ENSP00000362299.4:p.Ala396GlnfsTer25
ENST00000480266.5:c.640del ENSP00000479015.1:p.Ala214GlnfsTer25
ENST00000486329.1:n.154del
NM_000118.3:c.1186del , LRG_589t1:c.1186del NP_000109.1:p.Ala396GlnfsTer25
NM_001114753.2:c.1186del , LRG_589t2:c.1186del NP_001108225.1:p.Ala396GlnfsTer25
NM_001278138.1:c.640del NP_001265067.1:p.Ala214GlnfsTer25
NR_136302.1:n.1569-1208del
NM_001114753.3:c.1186del MANE Select NP_001108225.1:p.Ala396GlnfsTer25
NM_001278138.2:c.640del NP_001265067.1:p.Ala214GlnfsTer25