Canonical Allele Identifier: CA1879998248
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127853973_127853975delinsACT , CM000671.2:g.127853973_127853975delinsACT GRCh38
NC_000009.11:g.130616252_130616254delinsACT , CM000671.1:g.130616252_130616254delinsACT GRCh37
NC_000009.10:g.129656073_129656075delinsACT NCBI36
NG_009551.1:g.5794_5796delinsAGT , LRG_589:g.5794_5796delinsAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.67+314_67+316delinsAGT MANE Select ENSP00000362299.4:n.67+314_67+316delinsAGT
ENST00000344849.4:c.67+314_67+316delinsAGT ENSP00000341917.3:n.67+314_67+316delinsAGT
ENST00000373203.8:c.67+314_67+316delinsAGT ENSP00000362299.4:n.67+314_67+316delinsAGT
NM_000118.3:c.67+314_67+316delinsAGT , LRG_589t1:c.67+314_67+316delinsAGT NP_000109.1:n.67+314_67+316delinsAGT
NM_001114753.2:c.67+314_67+316delinsAGT , LRG_589t2:c.67+314_67+316delinsAGT NP_001108225.1:n.67+314_67+316delinsAGT
NM_001114753.3:c.67+314_67+316delinsAGT MANE Select NP_001108225.1:n.67+314_67+316delinsAGT