Canonical Allele Identifier: CA2499225650
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 1069598
ClinVar RCV Id: RCV001796473
dbSNP Id: rs2145149748
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856047del , CM000681.2:g.856047del GRCh38
NC_000019.9:g.856047del , CM000681.1:g.856047del GRCh37
NC_000019.8:g.807047del NCBI36
NG_007274.1:g.1383del , LRG_46:g.1383del
NG_009627.1:g.8757del , LRG_57:g.8757del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.687del MANE Select ENSP00000263621.1:p.Asp230MetfsTer10
ENST00000263621.1:c.687del ENSP00000263621.1:p.Asp230MetfsTer10
ENST00000590230.5:c.687del ENSP00000466090.1:p.Asp230MetfsTer10
NM_001972.2:c.687del , LRG_57t1:c.687del NP_001963.1:p.Asp230MetfsTer10
XM_011527775.1:c.687del XP_011526077.1:p.Asp230MetfsTer10
XM_011527776.1:c.687del XP_011526078.1:p.Asp230MetfsTer10
NM_001972.3:c.687del NP_001963.1:p.Asp230MetfsTer10
NM_001972.4:c.687del MANE Select NP_001963.1:p.Asp230MetfsTer10
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