Canonical Allele Identifier: CA2317360176

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853366_853367delinsAC , CM000681.2:g.853366_853367delinsAC	GRCh38
NC_000019.9:g.853366_853367delinsAC , CM000681.1:g.853366_853367delinsAC	GRCh37
NC_000019.8:g.804366_804367delinsAC	NCBI36
NG_009627.1:g.6076_6077delinsAC , LRG_57:g.6076_6077delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.329_330delinsAC MANE Select	ENSP00000263621.1:p.Asp110=
ENST00000263621.1:c.329_330delinsAC	ENSP00000263621.1:p.Asp110=
ENST00000590230.5:c.329_330delinsAC	ENSP00000466090.1:p.Asp110=
NM_001972.2:c.329_330delinsAC , LRG_57t1:c.329_330delinsAC	NP_001963.1:p.Asp110=
XM_011527775.1:c.329_330delinsAC	XP_011526077.1:p.Asp110=
XM_011527776.1:c.329_330delinsAC	XP_011526078.1:p.Asp110=
NM_001972.3:c.329_330delinsAC	NP_001963.1:p.Asp110=
NM_001972.4:c.329_330delinsAC MANE Select	NP_001963.1:p.Asp110=