Canonical Allele Identifier: CA2317361400

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855662_855685delinsCTGGGGCCTTCTGGGCAGGAACCG , CM000681.2:g.855662_855685delinsCTGGGGCCTTCTGGGCAGGAACCG	GRCh38
NC_000019.9:g.855662_855685delinsCTGGGGCCTTCTGGGCAGGAACCG , CM000681.1:g.855662_855685delinsCTGGGGCCTTCTGGGCAGGAACCG	GRCh37
NC_000019.8:g.806662_806685delinsCTGGGGCCTTCTGGGCAGGAACCG	NCBI36
NG_007274.1:g.998_1021delinsCTGGGGCCTTCTGGGCAGGAACCG , LRG_46:g.998_1021delinsCTGGGGCCTTCTGGGCAGGAACCG
NG_009627.1:g.8372_8395delinsCTGGGGCCTTCTGGGCAGGAACCG , LRG_57:g.8372_8395delinsCTGGGGCCTTCTGGGCAGGAACCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.465_488delinsCTGGGGCCTTCTGGGCAGGAACCG MANE Select	ENSP00000263621.1:p.Gly155=
ENST00000263621.1:c.465_488delinsCTGGGGCCTTCTGGGCAGGAACCG	ENSP00000263621.1:p.Gly155=
ENST00000590230.5:c.465_488delinsCTGGGGCCTTCTGGGCAGGAACCG	ENSP00000466090.1:p.Gly155=
NM_001972.2:c.465_488delinsCTGGGGCCTTCTGGGCAGGAACCG , LRG_57t1:c.465_488delinsCTGGGGCCTTCTGGGCAGGAACCG	NP_001963.1:p.Gly155=
XM_011527775.1:c.465_488delinsCTGGGGCCTTCTGGGCAGGAACCG	XP_011526077.1:p.Gly155=
XM_011527776.1:c.465_488delinsCTGGGGCCTTCTGGGCAGGAACCG	XP_011526078.1:p.Gly155=
NM_001972.3:c.465_488delinsCTGGGGCCTTCTGGGCAGGAACCG	NP_001963.1:p.Gly155=
NM_001972.4:c.465_488delinsCTGGGGCCTTCTGGGCAGGAACCG MANE Select	NP_001963.1:p.Gly155=