Canonical Allele Identifier: CA2587805337
Gene: ELANE HGNC NCBI

Linked Data

gnomAD v4: 19-855825-AC-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855828del , CM000681.2:g.855828del GRCh38
NC_000019.9:g.855828del , CM000681.1:g.855828del GRCh37
NC_000019.8:g.806828del NCBI36
NG_007274.1:g.1164del , LRG_46:g.1164del
NG_009627.1:g.8538del , LRG_57:g.8538del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.597+34del MANE Select ENSP00000263621.1:n.597+34del
ENST00000263621.1:c.597+34del ENSP00000263621.1:n.597+34del
ENST00000590230.5:c.597+34del ENSP00000466090.1:n.597+34del
NM_001972.2:c.597+34del , LRG_57t1:c.597+34del NP_001963.1:n.597+34del
XM_011527775.1:c.597+34del XP_011526077.1:n.597+34del
XM_011527776.1:c.597+34del XP_011526078.1:n.597+34del
NM_001972.3:c.597+34del NP_001963.1:n.597+34del
NM_001972.4:c.597+34del MANE Select NP_001963.1:n.597+34del