Canonical Allele Identifier: CA2587805057
Gene: ELANE HGNC NCBI

Linked Data

gnomAD v4: 19-853242-CG-C

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853243del , CM000681.2:g.853243del GRCh38
NC_000019.9:g.853243del , CM000681.1:g.853243del GRCh37
NC_000019.8:g.804243del NCBI36
NG_009627.1:g.5953del , LRG_57:g.5953del

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.225-19del MANE Select ENSP00000263621.1:n.225-19del
ENST00000263621.1:c.225-19del ENSP00000263621.1:n.225-19del
ENST00000590230.5:c.225-19del ENSP00000466090.1:n.225-19del
NM_001972.2:c.225-19del , LRG_57t1:c.225-19del NP_001963.1:n.225-19del
XM_011527775.1:c.225-19del XP_011526077.1:n.225-19del
XM_011527776.1:c.225-19del XP_011526078.1:n.225-19del
NM_001972.3:c.225-19del NP_001963.1:n.225-19del
NM_001972.4:c.225-19del MANE Select NP_001963.1:n.225-19del