Canonical Allele Identifier: CA2587805476
Gene: ELANE HGNC NCBI

Linked Data

gnomAD v4: 19-856156-AC-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856159del , CM000681.2:g.856159del GRCh38
NC_000019.9:g.856159del , CM000681.1:g.856159del GRCh37
NC_000019.8:g.807159del NCBI36
NG_007274.1:g.1495del , LRG_46:g.1495del
NG_009627.1:g.8869del , LRG_57:g.8869del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.799del MANE Select ENSP00000263621.1:p.His267ThrfsTer?
ENST00000263621.1:c.799del ENSP00000263621.1:p.His267ThrfsTer?
ENST00000590230.5:c.799del ENSP00000466090.1:p.His267ThrfsTer?
NM_001972.2:c.799del , LRG_57t1:c.799del NP_001963.1:p.His267ThrfsTer?
XM_011527775.1:c.799del XP_011526077.1:p.His267ThrfsTer?
XM_011527776.1:c.799del XP_011526078.1:p.His267ThrfsTer?
NM_001972.3:c.799del NP_001963.1:p.His267ThrfsTer?
NM_001972.4:c.799del MANE Select NP_001963.1:p.His267ThrfsTer?