Canonical Allele Identifier: CA2579461267
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824706_127824713del , CM000671.2:g.127824706_127824713del GRCh38
NC_000009.11:g.130586985_130586992del , CM000671.1:g.130586985_130586992del GRCh37
NC_000009.10:g.129626806_129626813del NCBI36
NG_009551.1:g.35056_35063del , LRG_589:g.35056_35063del

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.445+87_445+94del ENSP00000479015.1:n.445+87_445+94del
ENST00000373203.9:c.991+87_991+94del MANE Select ENSP00000362299.4:n.991+87_991+94del
ENST00000344849.4:c.991+87_991+94del ENSP00000341917.3:n.991+87_991+94del
ENST00000373203.8:c.991+87_991+94del ENSP00000362299.4:n.991+87_991+94del
ENST00000480266.5:c.445+87_445+94del ENSP00000479015.1:n.445+87_445+94del
NM_000118.3:c.991+87_991+94del , LRG_589t1:c.991+87_991+94del NP_000109.1:n.991+87_991+94del
NM_001114753.2:c.991+87_991+94del , LRG_589t2:c.991+87_991+94del NP_001108225.1:n.991+87_991+94del
NM_001278138.1:c.445+87_445+94del NP_001265067.1:n.445+87_445+94del
NM_001114753.3:c.991+87_991+94del MANE Select NP_001108225.1:n.991+87_991+94del
NM_001278138.2:c.445+87_445+94del NP_001265067.1:n.445+87_445+94del