Canonical Allele Identifier: CA16620914

Gene: ELANE

Linked Data

• ClinVar Variation Id: 421871
• ClinVar RCV Id: RCV000483486 ; RCV002526614
• dbSNP Id: rs1064795415

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855778_855779delinsCT , CM000681.2:g.855778_855779delinsCT	GRCh38
NC_000019.9:g.855778_855779delinsCT , CM000681.1:g.855778_855779delinsCT	GRCh37
NC_000019.8:g.806778_806779delinsCT	NCBI36
NG_007274.1:g.1114_1115delinsCT , LRG_46:g.1114_1115delinsCT
NG_009627.1:g.8488_8489delinsCT , LRG_57:g.8488_8489delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.581_582delinsCT MANE Select	ENSP00000263621.1:p.Gln194Pro
ENST00000263621.1:c.581_582delinsCT	ENSP00000263621.1:p.Gln194Pro
ENST00000590230.5:c.581_582delinsCT	ENSP00000466090.1:p.Gln194Pro
NM_001972.2:c.581_582delinsCT , LRG_57t1:c.581_582delinsCT	NP_001963.1:p.Gln194Pro
XM_011527775.1:c.581_582delinsCT	XP_011526077.1:p.Gln194Pro
XM_011527776.1:c.581_582delinsCT	XP_011526078.1:p.Gln194Pro
NM_001972.3:c.581_582delinsCT	NP_001963.1:p.Gln194Pro
NM_001972.4:c.581_582delinsCT MANE Select	NP_001963.1:p.Gln194Pro