Canonical Allele Identifier: CA1879981861
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815990_127815991delinsAT , CM000671.2:g.127815990_127815991delinsAT GRCh38
NC_000009.11:g.130578269_130578270delinsAT , CM000671.1:g.130578269_130578270delinsAT GRCh37
NC_000009.10:g.129618090_129618091delinsAT NCBI36
NG_009551.1:g.43778_43779delinsAT , LRG_589:g.43778_43779delinsAT
NG_023245.1:g.18116_18117delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1258_1259delinsAT ENSP00000479015.1:p.Ile420=
ENST00000373203.9:c.1804_1805delinsAT MANE Select ENSP00000362299.4:p.Ile602=
ENST00000344849.4:c.1804_1805delinsAT ENSP00000341917.3:p.Ile602=
ENST00000373203.8:c.1804_1805delinsAT ENSP00000362299.4:p.Ile602=
ENST00000480266.5:c.1258_1259delinsAT ENSP00000479015.1:p.Ile420=
NM_000118.3:c.1804_1805delinsAT , LRG_589t1:c.1804_1805delinsAT NP_000109.1:p.Ile602=
NM_001114753.2:c.1804_1805delinsAT , LRG_589t2:c.1804_1805delinsAT NP_001108225.1:p.Ile602=
NM_001278138.1:c.1258_1259delinsAT NP_001265067.1:p.Ile420=
NM_001114753.3:c.1804_1805delinsAT MANE Select NP_001108225.1:p.Ile602=
NM_001278138.2:c.1258_1259delinsAT NP_001265067.1:p.Ile420=