Canonical Allele Identifier: CA1879972697
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824408_127824429delinsTGGTCTGGATCGGTGCGGGTGA , CM000671.2:g.127824408_127824429delinsTGGTCTGGATCGGTGCGGGTGA GRCh38
NC_000009.11:g.130586687_130586708delinsTGGTCTGGATCGGTGCGGGTGA , CM000671.1:g.130586687_130586708delinsTGGTCTGGATCGGTGCGGGTGA GRCh37
NC_000009.10:g.129626508_129626529delinsTGGTCTGGATCGGTGCGGGTGA NCBI36
NG_009551.1:g.35340_35361delinsTCACCCGCACCGATCCAGACCA , LRG_589:g.35340_35361delinsTCACCCGCACCGATCCAGACCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.463_484delinsTCACCCGCACCGATCCAGACCA ENSP00000479015.1:p.Ser155=
ENST00000373203.9:c.1009_1030delinsTCACCCGCACCGATCCAGACCA MANE Select ENSP00000362299.4:p.Ser337=
ENST00000344849.4:c.1009_1030delinsTCACCCGCACCGATCCAGACCA ENSP00000341917.3:p.Ser337=
ENST00000373203.8:c.1009_1030delinsTCACCCGCACCGATCCAGACCA ENSP00000362299.4:p.Ser337=
ENST00000480266.5:c.463_484delinsTCACCCGCACCGATCCAGACCA ENSP00000479015.1:p.Ser155=
NM_000118.3:c.1009_1030delinsTCACCCGCACCGATCCAGACCA , LRG_589t1:c.1009_1030delinsTCACCCGCACCGATCCAGACCA NP_000109.1:p.Ser337=
NM_001114753.2:c.1009_1030delinsTCACCCGCACCGATCCAGACCA , LRG_589t2:c.1009_1030delinsTCACCCGCACCGATCCAGACCA NP_001108225.1:p.Ser337=
NM_001278138.1:c.463_484delinsTCACCCGCACCGATCCAGACCA NP_001265067.1:p.Ser155=
NM_001114753.3:c.1009_1030delinsTCACCCGCACCGATCCAGACCA MANE Select NP_001108225.1:p.Ser337=
NM_001278138.2:c.463_484delinsTCACCCGCACCGATCCAGACCA NP_001265067.1:p.Ser155=