Canonical Allele Identifier: CA2695227777

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.852976_852977insCTGATT , CM000681.2:g.852976_852977insCTGATT	GRCh38
NC_000019.9:g.852976_852977insCTGATT , CM000681.1:g.852976_852977insCTGATT	GRCh37
NC_000019.8:g.803976_803977insCTGATT	NCBI36
NG_009627.1:g.5686_5687insCTGATT , LRG_57:g.5686_5687insCTGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.168_169insCTGATT MANE Select	ENSP00000263621.1:p.Gly56_Ala57insLeuIle
ENST00000263621.1:c.168_169insCTGATT	ENSP00000263621.1:p.Gly56_Ala57insLeuIle
ENST00000590230.5:c.168_169insCTGATT	ENSP00000466090.1:p.Gly56_Ala57insLeuIle
NM_001972.2:c.168_169insCTGATT , LRG_57t1:c.168_169insCTGATT	NP_001963.1:p.Gly56_Ala57insLeuIle
XM_011527775.1:c.168_169insCTGATT	XP_011526077.1:p.Gly56_Ala57insLeuIle
XM_011527776.1:c.168_169insCTGATT	XP_011526078.1:p.Gly56_Ala57insLeuIle
NM_001972.3:c.168_169insCTGATT	NP_001963.1:p.Gly56_Ala57insLeuIle
NM_001972.4:c.168_169insCTGATT MANE Select	NP_001963.1:p.Gly56_Ala57insLeuIle