Canonical Allele Identifier: CA2695227810

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855956_855957del , CM000681.2:g.855956_855957del	GRCh38
NC_000019.9:g.855956_855957del , CM000681.1:g.855956_855957del	GRCh37
NC_000019.8:g.806956_806957del	NCBI36
NG_007274.1:g.1292_1293del , LRG_46:g.1292_1293del
NG_009627.1:g.8666_8667del , LRG_57:g.8666_8667del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.598-2_598-1del MANE Select	ENSP00000263621.1:n.598-2_598-1del
ENST00000263621.1:c.598-2_598-1del	ENSP00000263621.1:n.598-2_598-1del
ENST00000590230.5:c.598-2_598-1del	ENSP00000466090.1:n.598-2_598-1del
NM_001972.2:c.598-2_598-1del , LRG_57t1:c.598-2_598-1del	NP_001963.1:n.598-2_598-1del
XM_011527775.1:c.598-2_598-1del	XP_011526077.1:n.598-2_598-1del
XM_011527776.1:c.598-2_598-1del	XP_011526078.1:n.598-2_598-1del
NM_001972.3:c.598-2_598-1del	NP_001963.1:n.598-2_598-1del
NM_001972.4:c.598-2_598-1del MANE Select	NP_001963.1:n.598-2_598-1del