Canonical Allele Identifier: CA2695227787

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853296_853298del , CM000681.2:g.853296_853298del	GRCh38
NC_000019.9:g.853296_853298del , CM000681.1:g.853296_853298del	GRCh37
NC_000019.8:g.804296_804298del	NCBI36
NG_009627.1:g.6006_6008del , LRG_57:g.6006_6008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.259_261del MANE Select	ENSP00000263621.1:p.His87del
ENST00000263621.1:c.259_261del	ENSP00000263621.1:p.His87del
ENST00000590230.5:c.259_261del	ENSP00000466090.1:p.His87del
NM_001972.2:c.259_261del , LRG_57t1:c.259_261del	NP_001963.1:p.His87del
XM_011527775.1:c.259_261del	XP_011526077.1:p.His87del
XM_011527776.1:c.259_261del	XP_011526078.1:p.His87del
NM_001972.3:c.259_261del	NP_001963.1:p.His87del
NM_001972.4:c.259_261del MANE Select	NP_001963.1:p.His87del