Canonical Allele Identifier: CA2576540537
Gene: ELANE HGNC NCBI

Linked Data

gnomAD v4: 19-856234-C-CT

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.856235dup , CM000681.2:g.856235dup GRCh38
NC_000019.9:g.856235dup , CM000681.1:g.856235dup GRCh37
NC_000019.8:g.807235dup NCBI36
NG_007274.1:g.1571dup , LRG_46:g.1571dup
NG_009627.1:g.8945dup , LRG_57:g.8945dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.*71dup MANE Select ENSP00000263621.1:n.*71dup
ENST00000263621.1:c.*71dup ENSP00000263621.1:n.*71dup
ENST00000590230.5:c.*71dup ENSP00000466090.1:n.*71dup
NM_001972.2:c.*71dup , LRG_57t1:c.*71dup NP_001963.1:n.*71dup
XM_011527775.1:c.*71dup XP_011526077.1:n.*71dup
XM_011527776.1:c.*71dup XP_011526078.1:n.*71dup
NM_001972.3:c.*71dup NP_001963.1:n.*71dup
NM_001972.4:c.*71dup MANE Select NP_001963.1:n.*71dup