Canonical Allele Identifier: CA16618749
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 419981
ClinVar RCV Id: RCV000486392 RCV000693436 RCV001287654
dbSNP Id: rs1064794219
MyVariant Identifiers: chr9:g.130587601_130587605del (hg19) chr9:g.127825322_127825326del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127825325_127825329del , CM000671.2:g.127825325_127825329del GRCh38
NC_000009.11:g.130587604_130587608del , CM000671.1:g.130587604_130587608del GRCh37
NC_000009.10:g.129627425_129627429del NCBI36
NG_009551.1:g.34443_34447del , LRG_589:g.34443_34447del

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.175_179del ENSP00000479015.1:p.Ser59ArgfsTer?
ENST00000373203.9:c.721_725del MANE Select ENSP00000362299.4:p.Ser241ArgfsTer?
ENST00000344849.4:c.721_725del ENSP00000341917.3:p.Ser241ArgfsTer?
ENST00000373203.8:c.721_725del ENSP00000362299.4:p.Ser241ArgfsTer?
ENST00000480266.5:c.175_179del ENSP00000479015.1:p.Ser59ArgfsTer?
NM_000118.3:c.721_725del , LRG_589t1:c.721_725del NP_000109.1:p.Ser241ArgfsTer?
NM_001114753.2:c.721_725del , LRG_589t2:c.721_725del NP_001108225.1:p.Ser241ArgfsTer?
NM_001278138.1:c.175_179del NP_001265067.1:p.Ser59ArgfsTer?
NM_001114753.3:c.721_725del MANE Select NP_001108225.1:p.Ser241ArgfsTer?
NM_001278138.2:c.175_179del NP_001265067.1:p.Ser59ArgfsTer?
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