Canonical Allele Identifier: CA10583967
Gene: ELANE HGNC NCBI

Linked Data

ClinVar Variation Id: 242297
ClinVar RCV Id: RCV000234597
dbSNP Id: rs879255272
MyVariant Identifiers: chr19:g.853373_853396del (hg19) chr19:g.853373_853396del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853373_853396del , CM000681.2:g.853373_853396del GRCh38
NC_000019.9:g.853373_853396del , CM000681.1:g.853373_853396del GRCh37
NC_000019.8:g.804373_804396del NCBI36
NG_009627.1:g.6083_6106del , LRG_57:g.6083_6106del

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.336_359del MANE Select ENSP00000263621.1:p.Asn113_Ile120del
ENST00000263621.1:c.336_359del ENSP00000263621.1:p.Asn113_Ile120del
ENST00000590230.5:c.336_359del ENSP00000466090.1:p.Asn113_Ile120del
NM_001972.2:c.336_359del , LRG_57t1:c.336_359del NP_001963.1:p.Asn113_Ile120del
XM_011527775.1:c.336_359del XP_011526077.1:p.Asn113_Ile120del
XM_011527776.1:c.336_359del XP_011526078.1:p.Asn113_Ile120del
NM_001972.3:c.336_359del NP_001963.1:p.Asn113_Ile120del
NM_001972.4:c.336_359del MANE Select NP_001963.1:p.Asn113_Ile120del
Search 100 bp 5'
Search 100 bp 3'