Canonical Allele Identifier: CA1879981665
Gene: ENG HGNC NCBI

Linked Data

dbSNP Id: rs1830298623

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815899_127815902del , CM000671.2:g.127815899_127815902del GRCh38
NC_000009.11:g.130578178_130578181del , CM000671.1:g.130578178_130578181del GRCh37
NC_000009.10:g.129617999_129618002del NCBI36
NG_009551.1:g.43871_43874del , LRG_589:g.43871_43874del
NG_023245.1:g.18025_18028del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480266.6:c.1306+45_1306+48del ENSP00000479015.1:n.1306+45_1306+48del
ENST00000373203.9:c.1852+45_1852+48del MANE Select ENSP00000362299.4:n.1852+45_1852+48del
ENST00000344849.4:c.*19_*22del ENSP00000341917.3:n.*19_*22del
ENST00000373203.8:c.1852+45_1852+48del ENSP00000362299.4:n.1852+45_1852+48del
ENST00000480266.5:c.1306+45_1306+48del ENSP00000479015.1:n.1306+45_1306+48del
NM_000118.3:c.*19_*22del , LRG_589t1:c.*19_*22del NP_000109.1:n.*19_*22del
NM_001114753.2:c.1852+45_1852+48del , LRG_589t2:c.1852+45_1852+48del NP_001108225.1:n.1852+45_1852+48del
NM_001278138.1:c.1306+45_1306+48del NP_001265067.1:n.1306+45_1306+48del
NM_001114753.3:c.1852+45_1852+48del MANE Select NP_001108225.1:n.1852+45_1852+48del
NM_001278138.2:c.1306+45_1306+48del NP_001265067.1:n.1306+45_1306+48del