Canonical Allele Identifier: CA645294055
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 426046
ClinVar RCV Id: RCV000488618
dbSNP Id: rs1085307435
MyVariant Identifiers: chr9:g.130578270del (hg19) chr9:g.127815991del (hg38)
PubMed: PMID:23919827 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127815991del , CM000671.2:g.127815991del GRCh38
NC_000009.11:g.130578270del , CM000671.1:g.130578270del GRCh37
NC_000009.10:g.129618091del NCBI36
NG_009551.1:g.43778del , LRG_589:g.43778del
NG_023245.1:g.18117del

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.1258del ENSP00000479015.1:p.Ile420SerfsTer?
ENST00000373203.9:c.1804del MANE Select ENSP00000362299.4:p.Ile602SerfsTer?
ENST00000344849.4:c.1804del ENSP00000341917.3:p.Ile602SerfsTer?
ENST00000373203.8:c.1804del ENSP00000362299.4:p.Ile602SerfsTer?
ENST00000480266.5:c.1258del ENSP00000479015.1:p.Ile420SerfsTer?
NM_000118.3:c.1804del , LRG_589t1:c.1804del NP_000109.1:p.Ile602SerfsTer?
NM_001114753.2:c.1804del , LRG_589t2:c.1804del NP_001108225.1:p.Ile602SerfsTer?
NM_001278138.1:c.1258del NP_001265067.1:p.Ile420SerfsTer?
NM_001114753.3:c.1804del MANE Select NP_001108225.1:p.Ile602SerfsTer?
NM_001278138.2:c.1258del NP_001265067.1:p.Ile420SerfsTer?
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