Canonical Allele Identifier: CA2695211224
Gene: ENG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127824320_127824342del , CM000671.2:g.127824320_127824342del GRCh38
NC_000009.11:g.130586599_130586621del , CM000671.1:g.130586599_130586621del GRCh37
NC_000009.10:g.129626420_129626442del NCBI36
NG_009551.1:g.35429_35451del , LRG_589:g.35429_35451del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.552_574del ENSP00000479015.1:p.Asp184GlufsTer22
ENST00000373203.9:c.1098_1120del MANE Select ENSP00000362299.4:p.Asp366GlufsTer22
ENST00000344849.4:c.1098_1120del ENSP00000341917.3:p.Asp366GlufsTer22
ENST00000373203.8:c.1098_1120del ENSP00000362299.4:p.Asp366GlufsTer22
ENST00000480266.5:c.552_574del ENSP00000479015.1:p.Asp184GlufsTer22
ENST00000486329.1:n.66_88del
NM_000118.3:c.1098_1120del , LRG_589t1:c.1098_1120del NP_000109.1:p.Asp366GlufsTer22
NM_001114753.2:c.1098_1120del , LRG_589t2:c.1098_1120del NP_001108225.1:p.Asp366GlufsTer22
NM_001278138.1:c.552_574del NP_001265067.1:p.Asp184GlufsTer22
NM_001114753.3:c.1098_1120del MANE Select NP_001108225.1:p.Asp366GlufsTer22
NM_001278138.2:c.552_574del NP_001265067.1:p.Asp184GlufsTer22