Canonical Allele Identifier: CA16043100
Gene: ELANE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 373070
ClinVar RCV Id: RCV000413923
dbSNP Id: rs1057518191

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855960_855961dup , CM000681.2:g.855960_855961dup GRCh38
NC_000019.9:g.855960_855961dup , CM000681.1:g.855960_855961dup GRCh37
NC_000019.8:g.806960_806961dup NCBI36
NG_007274.1:g.1296_1297dup , LRG_46:g.1296_1297dup
NG_009627.1:g.8670_8671dup , LRG_57:g.8670_8671dup

Transcript Alleles

HGVS Amino-acid change
NM_001972.2:c.600_601dup , LRG_57t1:c.600_601dup
XM_011527775.1:c.600_601dup
XM_011527776.1:c.600_601dup
NM_001972.3:c.600_601dup VV
NM_001972.4:c.600_601dup VV MANE Preferred
ENST00000263621.1:c.600_601dup
ENST00000590230.5:c.600_601dup