Canonical Allele Identifier: CA2587805314
Gene: ELANE HGNC NCBI

Linked Data

gnomAD v4: 19-855619-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855622del , CM000681.2:g.855622del GRCh38
NC_000019.9:g.855622del , CM000681.1:g.855622del GRCh37
NC_000019.8:g.806622del NCBI36
NG_007274.1:g.958del , LRG_46:g.958del
NG_009627.1:g.8332del , LRG_57:g.8332del

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.425del MANE Select ENSP00000263621.1:p.Gly142AspfsTer?
ENST00000263621.1:c.425del ENSP00000263621.1:p.Gly142AspfsTer?
ENST00000590230.5:c.425del ENSP00000466090.1:p.Gly142AspfsTer?
NM_001972.2:c.425del , LRG_57t1:c.425del NP_001963.1:p.Gly142AspfsTer?
XM_011527775.1:c.425del XP_011526077.1:p.Gly142AspfsTer?
XM_011527776.1:c.425del XP_011526078.1:p.Gly142AspfsTer?
NM_001972.3:c.425del NP_001963.1:p.Gly142AspfsTer?
NM_001972.4:c.425del MANE Select NP_001963.1:p.Gly142AspfsTer?
Search 100 bp 5'
Search 100 bp 3'