Canonical Allele Identifier: CA9025985

Gene: ELANE

Linked Data

• ClinVar Variation Id: 242303
• ClinVar RCV Id: RCV000226787 ; RCV002518395
• dbSNP Id: rs1468631555
• ExAC: 19:853293 G / GCCCATAACCTCT
• gnomAD v2: 19-853293-G-GCCCATAACCTCT
• gnomAD v4: 19-853293-G-GCCCATAACCTCT
• MyVariant Identifiers: chr19:g.853295_853306dupCCATAACCTCTC (hg19) ; chr19:g.853293_853294insCCCATAACCTCT (hg19) ; chr19:g.853295_853306dupCCATAACCTCTC (hg38) ; chr19:g.853293_853294insCCCATAACCTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853295_853306dup , CM000681.2:g.853295_853306dup	GRCh38
NC_000019.9:g.853295_853306dup , CM000681.1:g.853295_853306dup	GRCh37
NC_000019.8:g.804295_804306dup	NCBI36
NG_009627.1:g.6005_6016dup , LRG_57:g.6005_6016dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.258_269dup MANE Select	ENSP00000263621.1:p.Ser90_Arg91insHisAsnLeuSer
ENST00000263621.1:c.258_269dup	ENSP00000263621.1:p.Ser90_Arg91insHisAsnLeuSer
ENST00000590230.5:c.258_269dup	ENSP00000466090.1:p.Ser90_Arg91insHisAsnLeuSer
NM_001972.2:c.258_269dup , LRG_57t1:c.258_269dup	NP_001963.1:p.Ser90_Arg91insHisAsnLeuSer
XM_011527775.1:c.258_269dup	XP_011526077.1:p.Ser90_Arg91insHisAsnLeuSer
XM_011527776.1:c.258_269dup	XP_011526078.1:p.Ser90_Arg91insHisAsnLeuSer
NM_001972.3:c.258_269dup	NP_001963.1:p.Ser90_Arg91insHisAsnLeuSer
NM_001972.4:c.258_269dup MANE Select	NP_001963.1:p.Ser90_Arg91insHisAsnLeuSer