Canonical Allele Identifier: CA913190141
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127820027del , CM000671.2:g.127820027del GRCh38
NC_000009.11:g.130582306del , CM000671.1:g.130582306del GRCh37
NC_000009.10:g.129622127del NCBI36
NG_009551.1:g.39742del , LRG_589:g.39742del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.599del ENSP00000479015.1:p.Cys200SerfsTer6
ENST00000373203.9:c.1145del MANE Select ENSP00000362299.4:p.Cys382SerfsTer6
ENST00000344849.4:c.1145del ENSP00000341917.3:p.Cys382SerfsTer6
ENST00000373203.8:c.1145del ENSP00000362299.4:p.Cys382SerfsTer6
ENST00000480266.5:c.599del ENSP00000479015.1:p.Cys200SerfsTer6
ENST00000486329.1:n.113del
NM_000118.3:c.1145del , LRG_589t1:c.1145del NP_000109.1:p.Cys382SerfsTer6
NM_001114753.2:c.1145del , LRG_589t2:c.1145del NP_001108225.1:p.Cys382SerfsTer6
NM_001278138.1:c.599del NP_001265067.1:p.Cys200SerfsTer6
NR_136302.1:n.1569-1168del
NM_001114753.3:c.1145del MANE Select NP_001108225.1:p.Cys382SerfsTer6
NM_001278138.2:c.599del NP_001265067.1:p.Cys200SerfsTer6