Canonical Allele Identifier: CA2695211221
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818183dup , CM000671.2:g.127818183dup GRCh38
NC_000009.11:g.130580462dup , CM000671.1:g.130580462dup GRCh37
NC_000009.10:g.129620283dup NCBI36
NG_009551.1:g.41586dup , LRG_589:g.41586dup

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.1077dup ENSP00000479015.1:p.Pro360ThrfsTer25
ENST00000373203.9:c.1623dup MANE Select ENSP00000362299.4:p.Pro542ThrfsTer25
ENST00000344849.4:c.1623dup ENSP00000341917.3:p.Pro542ThrfsTer25
ENST00000373203.8:c.1623dup ENSP00000362299.4:p.Pro542ThrfsTer25
ENST00000480266.5:c.1077dup ENSP00000479015.1:p.Pro360ThrfsTer25
NM_000118.3:c.1623dup , LRG_589t1:c.1623dup NP_000109.1:p.Pro542ThrfsTer25
NM_001114753.2:c.1623dup , LRG_589t2:c.1623dup NP_001108225.1:p.Pro542ThrfsTer25
NM_001278138.1:c.1077dup NP_001265067.1:p.Pro360ThrfsTer25
NR_136302.1:n.1378-128dup
NM_001114753.3:c.1623dup MANE Select NP_001108225.1:p.Pro542ThrfsTer25
NM_001278138.2:c.1077dup NP_001265067.1:p.Pro360ThrfsTer25