Canonical Allele Identifier: CA16612592
Gene: ENG HGNC NCBI

Linked Data

ClinVar Variation Id: 407117
ClinVar RCV Id: RCV002230776
dbSNP Id: rs1060501412
MyVariant Identifiers: chr9:g.130580999_130581008del (hg19) chr9:g.127818720_127818729del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127818720_127818729del , CM000671.2:g.127818720_127818729del GRCh38
NC_000009.11:g.130580999_130581008del , CM000671.1:g.130580999_130581008del GRCh37
NC_000009.10:g.129620820_129620829del NCBI36
NG_009551.1:g.41040_41049del , LRG_589:g.41040_41049del

Transcript Alleles

HGVS Amino-acid change
ENST00000480266.6:c.869_878del ENSP00000479015.1:p.Gln290ArgfsTer16
ENST00000373203.9:c.1415_1424del MANE Select ENSP00000362299.4:p.Gln472ArgfsTer16
ENST00000344849.4:c.1415_1424del ENSP00000341917.3:p.Gln472ArgfsTer16
ENST00000373203.8:c.1415_1424del ENSP00000362299.4:p.Gln472ArgfsTer16
ENST00000480266.5:c.869_878del ENSP00000479015.1:p.Gln290ArgfsTer16
NM_000118.3:c.1415_1424del , LRG_589t1:c.1415_1424del NP_000109.1:p.Gln472ArgfsTer16
NM_001114753.2:c.1415_1424del , LRG_589t2:c.1415_1424del NP_001108225.1:p.Gln472ArgfsTer16
NM_001278138.1:c.869_878del NP_001265067.1:p.Gln290ArgfsTer16
NR_136302.1:n.1568+9_1568+18del
NM_001114753.3:c.1415_1424del MANE Select NP_001108225.1:p.Gln472ArgfsTer16
NM_001278138.2:c.869_878del NP_001265067.1:p.Gln290ArgfsTer16
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