Canonical Allele Identifier: CA915951612
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 646593
ClinVar RCV Id: RCV001796232
dbSNP Id: rs1599293834

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855580_855582del , CM000681.2:g.855580_855582del GRCh38
NC_000019.9:g.855580_855582del , CM000681.1:g.855580_855582del GRCh37
NC_000019.8:g.806580_806582del NCBI36
NG_007274.1:g.916_918del , LRG_46:g.916_918del
NG_009627.1:g.8290_8292del , LRG_57:g.8290_8292del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.383_385del MANE Select ENSP00000263621.1:p.Thr128del
ENST00000263621.1:c.383_385del ENSP00000263621.1:p.Thr128del
ENST00000590230.5:c.383_385del ENSP00000466090.1:p.Thr128del
NM_001972.2:c.383_385del , LRG_57t1:c.383_385del NP_001963.1:p.Thr128del
XM_011527775.1:c.383_385del XP_011526077.1:p.Thr128del
XM_011527776.1:c.383_385del XP_011526078.1:p.Thr128del
NM_001972.3:c.383_385del NP_001963.1:p.Thr128del
NM_001972.4:c.383_385del MANE Select NP_001963.1:p.Thr128del