Canonical Allele Identifier: CA645294056
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 426041
ClinVar RCV Id: RCV000488603
dbSNP Id: rs1085307430
MyVariant Identifiers: chr9:g.130587977_130587981del (hg19) chr9:g.127825698_127825702del (hg38)
PubMed: PMID:14684682 PMID:26387786
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825699_127825703del , CM000671.2:g.127825699_127825703del GRCh38
NC_000009.11:g.130587978_130587982del , CM000671.1:g.130587978_130587982del GRCh37
NC_000009.10:g.129627799_129627803del NCBI36
NG_009551.1:g.34067_34071del , LRG_589:g.34067_34071del

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.136_140del ENSP00000479015.1:p.Ser46ArgfsTer?
ENST00000373203.9:c.682_686del MANE Select ENSP00000362299.4:p.Ser228ArgfsTer?
ENST00000344849.4:c.682_686del ENSP00000341917.3:p.Ser228ArgfsTer?
ENST00000373203.8:c.682_686del ENSP00000362299.4:p.Ser228ArgfsTer?
ENST00000480266.5:c.136_140del ENSP00000479015.1:p.Ser46ArgfsTer?
NM_000118.3:c.682_686del , LRG_589t1:c.682_686del NP_000109.1:p.Ser228ArgfsTer?
NM_001114753.2:c.682_686del , LRG_589t2:c.682_686del NP_001108225.1:p.Ser228ArgfsTer?
NM_001278138.1:c.136_140del NP_001265067.1:p.Ser46ArgfsTer?
XR_001746952.2:n.82+241_82+245del
NM_001114753.3:c.682_686del MANE Select NP_001108225.1:p.Ser228ArgfsTer?
NM_001278138.2:c.136_140del NP_001265067.1:p.Ser46ArgfsTer?
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