Canonical Allele Identifier: CA1879975383
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825621_127825622delinsGA , CM000671.2:g.127825621_127825622delinsGA GRCh38
NC_000009.11:g.130587900_130587901delinsGA , CM000671.1:g.130587900_130587901delinsGA GRCh37
NC_000009.10:g.129627721_129627722delinsGA NCBI36
NG_009551.1:g.34147_34148delinsTC , LRG_589:g.34147_34148delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.143+73_143+74delinsTC ENSP00000479015.1:n.143+73_143+74delinsTC
ENST00000373203.9:c.689+73_689+74delinsTC MANE Select ENSP00000362299.4:n.689+73_689+74delinsTC
ENST00000344849.4:c.689+73_689+74delinsTC ENSP00000341917.3:n.689+73_689+74delinsTC
ENST00000373203.8:c.689+73_689+74delinsTC ENSP00000362299.4:n.689+73_689+74delinsTC
ENST00000480266.5:c.143+73_143+74delinsTC ENSP00000479015.1:n.143+73_143+74delinsTC
NM_000118.3:c.689+73_689+74delinsTC , LRG_589t1:c.689+73_689+74delinsTC NP_000109.1:n.689+73_689+74delinsTC
NM_001114753.2:c.689+73_689+74delinsTC , LRG_589t2:c.689+73_689+74delinsTC NP_001108225.1:n.689+73_689+74delinsTC
NM_001278138.1:c.143+73_143+74delinsTC NP_001265067.1:n.143+73_143+74delinsTC
XR_001746952.2:n.82+163_82+164delinsGA
NM_001114753.3:c.689+73_689+74delinsTC MANE Select NP_001108225.1:n.689+73_689+74delinsTC
NM_001278138.2:c.143+73_143+74delinsTC NP_001265067.1:n.143+73_143+74delinsTC