Canonical Allele Identifier: CA2573053097
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 1330554
ClinVar RCV Id: RCV001803646
dbSNP Id: rs2131936455
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127854277_127854285del , CM000671.2:g.127854277_127854285del GRCh38
NC_000009.11:g.130616556_130616564del , CM000671.1:g.130616556_130616564del GRCh37
NC_000009.10:g.129656377_129656385del NCBI36
NG_009551.1:g.5486_5494del , LRG_589:g.5486_5494del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373203.9:c.67+6_67+14del MANE Select ENSP00000362299.4:n.67+6_67+14del
ENST00000344849.4:c.67+6_67+14del ENSP00000341917.3:n.67+6_67+14del
ENST00000373203.8:c.67+6_67+14del ENSP00000362299.4:n.67+6_67+14del
NM_000118.3:c.67+6_67+14del , LRG_589t1:c.67+6_67+14del NP_000109.1:n.67+6_67+14del
NM_001114753.2:c.67+6_67+14del , LRG_589t2:c.67+6_67+14del NP_001108225.1:n.67+6_67+14del
NM_001114753.3:c.67+6_67+14del MANE Select NP_001108225.1:n.67+6_67+14del
Search 100 bp 5'
Search 100 bp 3'