Canonical Allele Identifier: CA2695227820

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856022del , CM000681.2:g.856022del	GRCh38
NC_000019.9:g.856022del , CM000681.1:g.856022del	GRCh37
NC_000019.8:g.807022del	NCBI36
NG_007274.1:g.1358del , LRG_46:g.1358del
NG_009627.1:g.8732del , LRG_57:g.8732del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.662del MANE Select	ENSP00000263621.1:p.Gly221GlufsTer19
ENST00000263621.1:c.662del	ENSP00000263621.1:p.Gly221GlufsTer19
ENST00000590230.5:c.662del	ENSP00000466090.1:p.Gly221GlufsTer19
NM_001972.2:c.662del , LRG_57t1:c.662del	NP_001963.1:p.Gly221GlufsTer19
XM_011527775.1:c.662del	XP_011526077.1:p.Gly221GlufsTer19
XM_011527776.1:c.662del	XP_011526078.1:p.Gly221GlufsTer19
NM_001972.3:c.662del	NP_001963.1:p.Gly221GlufsTer19
NM_001972.4:c.662del MANE Select	NP_001963.1:p.Gly221GlufsTer19