Canonical Allele Identifier: CA10588690
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 265117
ClinVar RCV Id: RCV000254820
dbSNP Id: rs886039350
gnomAD v4: 19-852390-TG-T

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.852396del , CM000681.2:g.852396del GRCh38
NC_000019.9:g.852396del , CM000681.1:g.852396del GRCh37
NC_000019.8:g.803396del NCBI36
NG_009627.1:g.5106del , LRG_57:g.5106del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.67+1del
ENST00000263621.1:c.67+1del
ENST00000590230.5:c.67+1del
NM_001972.2:c.67+1del , LRG_57t1:c.67+1del
XM_011527775.1:c.67+1del
XM_011527776.1:c.67+1del
NM_001972.3:c.67+1del
NM_001972.4:c.67+1del