Canonical Allele Identifier: CA631295747
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs34535016
gnomAD v2: 19-853122-C-CG
gnomAD v3: 19-853122-C-CG
gnomAD v4: 19-853122-C-CG

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853131dup , CM000681.2:g.853131dup GRCh38
NC_000019.9:g.853131dup , CM000681.1:g.853131dup GRCh37
NC_000019.8:g.804131dup NCBI36
NG_009627.1:g.5841dup , LRG_57:g.5841dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.224+99dup MANE Select ENSP00000263621.1:n.224+99dup
ENST00000263621.1:c.224+99dup ENSP00000263621.1:n.224+99dup
ENST00000590230.5:c.224+99dup ENSP00000466090.1:n.224+99dup
NM_001972.2:c.224+99dup , LRG_57t1:c.224+99dup NP_001963.1:n.224+99dup
XM_011527775.1:c.224+99dup XP_011526077.1:n.224+99dup
XM_011527776.1:c.224+99dup XP_011526078.1:n.224+99dup
NM_001972.3:c.224+99dup NP_001963.1:n.224+99dup
NM_001972.4:c.224+99dup MANE Select NP_001963.1:n.224+99dup