Canonical Allele Identifier: CA1879981785
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127829718_127829727delinsTGGAGATGCA , CM000671.2:g.127829718_127829727delinsTGGAGATGCA GRCh38
NC_000009.11:g.130591997_130592006delinsTGGAGATGCA , CM000671.1:g.130591997_130592006delinsTGGAGATGCA GRCh37
NC_000009.10:g.129631818_129631827delinsTGGAGATGCA NCBI36
NG_009551.1:g.30042_30051delinsTGCATCTCCA , LRG_589:g.30042_30051delinsTGCATCTCCA

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.-227_-218delinsTGCATCTCCA ENSP00000479015.1:n.-227_-218delinsTGCATC...
ENST00000373203.9:c.320_329delinsTGCATCTCCA MANE Select ENSP00000362299.4:p.Leu107=
ENST00000344849.4:c.320_329delinsTGCATCTCCA ENSP00000341917.3:p.Leu107=
ENST00000373203.8:c.320_329delinsTGCATCTCCA ENSP00000362299.4:p.Leu107=
ENST00000462196.1:n.78_87delinsTGCATCTCCA
ENST00000480266.5:c.-227_-218delinsTGCATCTCCA ENSP00000479015.1:n.-227_-218delinsTGCATC...
NM_000118.3:c.320_329delinsTGCATCTCCA , LRG_589t1:c.320_329delinsTGCATCTCCA NP_000109.1:p.Leu107=
NM_001114753.2:c.320_329delinsTGCATCTCCA , LRG_589t2:c.320_329delinsTGCATCTCCA NP_001108225.1:p.Leu107=
NM_001278138.1:c.-227_-218delinsTGCATCTCCA NP_001265067.1:n.-227_-218delinsTGCATCTCC...
XR_001746952.2:n.83-2680_83-2671delinsTGGAGATGCA
NM_001114753.3:c.320_329delinsTGCATCTCCA MANE Select NP_001108225.1:p.Leu107=
NM_001278138.2:c.-227_-218delinsTGCATCTCCA NP_001265067.1:n.-227_-218delinsTGCATCTCC...