Canonical Allele Identifier: CA2317361472

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855778_855779delinsAG , CM000681.2:g.855778_855779delinsAG	GRCh38
NC_000019.9:g.855778_855779delinsAG , CM000681.1:g.855778_855779delinsAG	GRCh37
NC_000019.8:g.806778_806779delinsAG	NCBI36
NG_007274.1:g.1114_1115delinsAG , LRG_46:g.1114_1115delinsAG
NG_009627.1:g.8488_8489delinsAG , LRG_57:g.8488_8489delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.581_582delinsAG MANE Select	ENSP00000263621.1:p.Gln194=
ENST00000263621.1:c.581_582delinsAG	ENSP00000263621.1:p.Gln194=
ENST00000590230.5:c.581_582delinsAG	ENSP00000466090.1:p.Gln194=
NM_001972.2:c.581_582delinsAG , LRG_57t1:c.581_582delinsAG	NP_001963.1:p.Gln194=
XM_011527775.1:c.581_582delinsAG	XP_011526077.1:p.Gln194=
XM_011527776.1:c.581_582delinsAG	XP_011526078.1:p.Gln194=
NM_001972.3:c.581_582delinsAG	NP_001963.1:p.Gln194=
NM_001972.4:c.581_582delinsAG MANE Select	NP_001963.1:p.Gln194=