Canonical Allele Identifier: CA3019007932
Gene: ENG HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127816737_127816738del , CM000671.2:g.127816737_127816738del GRCh38
NC_000009.11:g.130579016_130579017del , CM000671.1:g.130579016_130579017del GRCh37
NC_000009.10:g.129618837_129618838del NCBI36
NG_009551.1:g.43035_43036del , LRG_589:g.43035_43036del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1195+415_1195+416del ENSP00000479015.1:n.1195+415_1195+416del
ENST00000373203.9:c.1741+415_1741+416del MANE Select ENSP00000362299.4:n.1741+415_1741+416del
ENST00000344849.4:c.1741+415_1741+416del ENSP00000341917.3:n.1741+415_1741+416del
ENST00000373203.8:c.1741+415_1741+416del ENSP00000362299.4:n.1741+415_1741+416del
ENST00000480266.5:c.1195+415_1195+416del ENSP00000479015.1:n.1195+415_1195+416del
NM_000118.3:c.1741+415_1741+416del , LRG_589t1:c.1741+415_1741+416del NP_000109.1:n.1741+415_1741+416del
NM_001114753.2:c.1741+415_1741+416del , LRG_589t2:c.1741+415_1741+416del NP_001108225.1:n.1741+415_1741+416del
NM_001278138.1:c.1195+415_1195+416del NP_001265067.1:n.1195+415_1195+416del
XM_011519273.1:c.159_160del XP_011517575.1:p.Glu54ThrfsTer?
NR_136302.1:n.672_673del
NM_001114753.3:c.1741+415_1741+416del MANE Select NP_001108225.1:n.1741+415_1741+416del
NM_001278138.2:c.1195+415_1195+416del NP_001265067.1:n.1195+415_1195+416del
Search 100 bp 5'
Search 100 bp 3'