Canonical Allele Identifier: CA2695211258
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818807_127818808dup , CM000671.2:g.127818807_127818808dup GRCh38
NC_000009.11:g.130581086_130581087dup , CM000671.1:g.130581086_130581087dup GRCh37
NC_000009.10:g.129620907_129620908dup NCBI36
NG_009551.1:g.40961_40962dup , LRG_589:g.40961_40962dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.790_791dup ENSP00000479015.1:p.Asp264GlufsTer?
ENST00000373203.9:c.1336_1337dup MANE Select ENSP00000362299.4:p.Asp446GlufsTer?
ENST00000344849.4:c.1336_1337dup ENSP00000341917.3:p.Asp446GlufsTer?
ENST00000373203.8:c.1336_1337dup ENSP00000362299.4:p.Asp446GlufsTer?
ENST00000480266.5:c.790_791dup ENSP00000479015.1:p.Asp264GlufsTer?
NM_000118.3:c.1336_1337dup , LRG_589t1:c.1336_1337dup NP_000109.1:p.Asp446GlufsTer?
NM_001114753.2:c.1336_1337dup , LRG_589t2:c.1336_1337dup NP_001108225.1:p.Asp446GlufsTer?
NM_001278138.1:c.790_791dup NP_001265067.1:p.Asp264GlufsTer?
NR_136302.1:n.1568+96_1568+97dup
NM_001114753.3:c.1336_1337dup MANE Select NP_001108225.1:p.Asp446GlufsTer?
NM_001278138.2:c.790_791dup NP_001265067.1:p.Asp264GlufsTer?