Canonical Allele Identifier: CA2695227819

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856018del , CM000681.2:g.856018del	GRCh38
NC_000019.9:g.856018del , CM000681.1:g.856018del	GRCh37
NC_000019.8:g.807018del	NCBI36
NG_007274.1:g.1354del , LRG_46:g.1354del
NG_009627.1:g.8728del , LRG_57:g.8728del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.658del MANE Select	ENSP00000263621.1:p.Arg220GlyfsTer20
ENST00000263621.1:c.658del	ENSP00000263621.1:p.Arg220GlyfsTer20
ENST00000590230.5:c.658del	ENSP00000466090.1:p.Arg220GlyfsTer20
NM_001972.2:c.658del , LRG_57t1:c.658del	NP_001963.1:p.Arg220GlyfsTer20
XM_011527775.1:c.658del	XP_011526077.1:p.Arg220GlyfsTer20
XM_011527776.1:c.658del	XP_011526078.1:p.Arg220GlyfsTer20
NM_001972.3:c.658del	NP_001963.1:p.Arg220GlyfsTer20
NM_001972.4:c.658del MANE Select	NP_001963.1:p.Arg220GlyfsTer20