Canonical Allele Identifier: CA2785996497
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815803dup , CM000671.2:g.127815803dup GRCh38
NC_000009.11:g.130578082dup , CM000671.1:g.130578082dup GRCh37
NC_000009.10:g.129617903dup NCBI36
NG_009551.1:g.43970dup , LRG_589:g.43970dup
NG_023245.1:g.17929dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1314dup ENSP00000479015.1:p.Ser439GlnfsTer?
ENST00000373203.9:c.1860dup MANE Select ENSP00000362299.4:p.Ser621GlnfsTer?
ENST00000344849.4:c.*118dup ENSP00000341917.3:n.*118dup
ENST00000373203.8:c.1860dup ENSP00000362299.4:p.Ser621GlnfsTer?
ENST00000480266.5:c.1314dup ENSP00000479015.1:p.Ser439GlnfsTer?
NM_000118.3:c.*118dup , LRG_589t1:c.*118dup NP_000109.1:n.*118dup
NM_001114753.2:c.1860dup , LRG_589t2:c.1860dup NP_001108225.1:p.Ser621GlnfsTer?
NM_001278138.1:c.1314dup NP_001265067.1:p.Ser439GlnfsTer?
NM_001114753.3:c.1860dup MANE Select NP_001108225.1:p.Ser621GlnfsTer?
NM_001278138.2:c.1314dup NP_001265067.1:p.Ser439GlnfsTer?