Canonical Allele Identifier: CA1879986344
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818354_127818356delinsGGA , CM000671.2:g.127818354_127818356delinsGGA GRCh38
NC_000009.11:g.130580633_130580635delinsGGA , CM000671.1:g.130580633_130580635delinsGGA GRCh37
NC_000009.10:g.129620454_129620456delinsGGA NCBI36
NG_009551.1:g.41413_41415delinsTCC , LRG_589:g.41413_41415delinsTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.904_906delinsTCC ENSP00000479015.1:p.Ser302=
ENST00000373203.9:c.1450_1452delinsTCC MANE Select ENSP00000362299.4:p.Ser484=
ENST00000344849.4:c.1450_1452delinsTCC ENSP00000341917.3:p.Ser484=
ENST00000373203.8:c.1450_1452delinsTCC ENSP00000362299.4:p.Ser484=
ENST00000480266.5:c.904_906delinsTCC ENSP00000479015.1:p.Ser302=
NM_000118.3:c.1450_1452delinsTCC , LRG_589t1:c.1450_1452delinsTCC NP_000109.1:p.Ser484=
NM_001114753.2:c.1450_1452delinsTCC , LRG_589t2:c.1450_1452delinsTCC NP_001108225.1:p.Ser484=
NM_001278138.1:c.904_906delinsTCC NP_001265067.1:p.Ser302=
NR_136302.1:n.1421_1423delinsGGA
NM_001114753.3:c.1450_1452delinsTCC MANE Select NP_001108225.1:p.Ser484=
NM_001278138.2:c.904_906delinsTCC NP_001265067.1:p.Ser302=