Canonical Allele Identifier: CA2317361468

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855773_855784delinsCCGGCAGGCCGG , CM000681.2:g.855773_855784delinsCCGGCAGGCCGG	GRCh38
NC_000019.9:g.855773_855784delinsCCGGCAGGCCGG , CM000681.1:g.855773_855784delinsCCGGCAGGCCGG	GRCh37
NC_000019.8:g.806773_806784delinsCCGGCAGGCCGG	NCBI36
NG_007274.1:g.1109_1120delinsCCGGCAGGCCGG , LRG_46:g.1109_1120delinsCCGGCAGGCCGG
NG_009627.1:g.8483_8494delinsCCGGCAGGCCGG , LRG_57:g.8483_8494delinsCCGGCAGGCCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.576_587delinsCCGGCAGGCCGG MANE Select	ENSP00000263621.1:p.Gly192=
ENST00000263621.1:c.576_587delinsCCGGCAGGCCGG	ENSP00000263621.1:p.Gly192=
ENST00000590230.5:c.576_587delinsCCGGCAGGCCGG	ENSP00000466090.1:p.Gly192=
NM_001972.2:c.576_587delinsCCGGCAGGCCGG , LRG_57t1:c.576_587delinsCCGGCAGGCCGG	NP_001963.1:p.Gly192=
XM_011527775.1:c.576_587delinsCCGGCAGGCCGG	XP_011526077.1:p.Gly192=
XM_011527776.1:c.576_587delinsCCGGCAGGCCGG	XP_011526078.1:p.Gly192=
NM_001972.3:c.576_587delinsCCGGCAGGCCGG	NP_001963.1:p.Gly192=
NM_001972.4:c.576_587delinsCCGGCAGGCCGG MANE Select	NP_001963.1:p.Gly192=