Canonical Allele Identifier: CA2580079580
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 1753314
ClinVar RCV Id: RCV002361563 RCV003098234
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854296del , CM000671.2:g.127854296del GRCh38
NC_000009.11:g.130616575del , CM000671.1:g.130616575del GRCh37
NC_000009.10:g.129656396del NCBI36
NG_009551.1:g.5476del , LRG_589:g.5476del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.63del MANE Select ENSP00000362299.4:p.Thr22GlnfsTer21
ENST00000344849.4:c.63del ENSP00000341917.3:p.Thr22GlnfsTer21
ENST00000373203.8:c.63del ENSP00000362299.4:p.Thr22GlnfsTer21
NM_000118.3:c.63del , LRG_589t1:c.63del NP_000109.1:p.Thr22GlnfsTer21
NM_001114753.2:c.63del , LRG_589t2:c.63del NP_001108225.1:p.Thr22GlnfsTer21
NM_001114753.3:c.63del MANE Select NP_001108225.1:p.Thr22GlnfsTer21
Search 100 bp 5'
Search 100 bp 3'