Canonical Allele Identifier: CA2580096959
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 2023737
ClinVar RCV Id: RCV002858175
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853292_853303del , CM000681.2:g.853292_853303del GRCh38
NC_000019.9:g.853292_853303del , CM000681.1:g.853292_853303del GRCh37
NC_000019.8:g.804292_804303del NCBI36
NG_009627.1:g.6002_6013del , LRG_57:g.6002_6013del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.255_266del MANE Select ENSP00000263621.1:p.Ala86_Leu89del
ENST00000263621.1:c.255_266del ENSP00000263621.1:p.Ala86_Leu89del
ENST00000590230.5:c.255_266del ENSP00000466090.1:p.Ala86_Leu89del
NM_001972.2:c.255_266del , LRG_57t1:c.255_266del NP_001963.1:p.Ala86_Leu89del
XM_011527775.1:c.255_266del XP_011526077.1:p.Ala86_Leu89del
XM_011527776.1:c.255_266del XP_011526078.1:p.Ala86_Leu89del
NM_001972.3:c.255_266del NP_001963.1:p.Ala86_Leu89del
NM_001972.4:c.255_266del MANE Select NP_001963.1:p.Ala86_Leu89del
Search 100 bp 5'
Search 100 bp 3'