Canonical Allele Identifier: CA645294054
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 426044
ClinVar RCV Id: RCV000488597 RCV000792337
dbSNP Id: rs1085307433
MyVariant Identifiers: chr9:g.130581013del (hg19) chr9:g.127818734del (hg38)
PubMed: PMID:15115879 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818737del , CM000671.2:g.127818737del GRCh38
NC_000009.11:g.130581016del , CM000671.1:g.130581016del GRCh37
NC_000009.10:g.129620837del NCBI36
NG_009551.1:g.41035del , LRG_589:g.41035del

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.864del ENSP00000479015.1:p.Gln289SerfsTer20
ENST00000373203.9:c.1410del MANE Select ENSP00000362299.4:p.Gln471SerfsTer20
ENST00000344849.4:c.1410del ENSP00000341917.3:p.Gln471SerfsTer20
ENST00000373203.8:c.1410del ENSP00000362299.4:p.Gln471SerfsTer20
ENST00000480266.5:c.864del ENSP00000479015.1:p.Gln289SerfsTer20
NM_000118.3:c.1410del , LRG_589t1:c.1410del NP_000109.1:p.Gln471SerfsTer20
NM_001114753.2:c.1410del , LRG_589t2:c.1410del NP_001108225.1:p.Gln471SerfsTer20
NM_001278138.1:c.864del NP_001265067.1:p.Gln289SerfsTer20
NR_136302.1:n.1568+26del
NM_001114753.3:c.1410del MANE Select NP_001108225.1:p.Gln471SerfsTer20
NM_001278138.2:c.864del NP_001265067.1:p.Gln289SerfsTer20
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