Canonical Allele Identifier: CA2695211219
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818179del , CM000671.2:g.127818179del GRCh38
NC_000009.11:g.130580458del , CM000671.1:g.130580458del GRCh37
NC_000009.10:g.129620279del NCBI36
NG_009551.1:g.41593del , LRG_589:g.41593del

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.1084del ENSP00000479015.1:p.Thr362ProfsTer8
ENST00000373203.9:c.1630del MANE Select ENSP00000362299.4:p.Thr544ProfsTer8
ENST00000344849.4:c.1630del ENSP00000341917.3:p.Thr544ProfsTer8
ENST00000373203.8:c.1630del ENSP00000362299.4:p.Thr544ProfsTer8
ENST00000480266.5:c.1084del ENSP00000479015.1:p.Thr362ProfsTer8
NM_000118.3:c.1630del , LRG_589t1:c.1630del NP_000109.1:p.Thr544ProfsTer8
NM_001114753.2:c.1630del , LRG_589t2:c.1630del NP_001108225.1:p.Thr544ProfsTer8
NM_001278138.1:c.1084del NP_001265067.1:p.Thr362ProfsTer8
NR_136302.1:n.1378-132del
NM_001114753.3:c.1630del MANE Select NP_001108225.1:p.Thr544ProfsTer8
NM_001278138.2:c.1084del NP_001265067.1:p.Thr362ProfsTer8