Canonical Allele Identifier: CA2695227785

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853278_853283del , CM000681.2:g.853278_853283del	GRCh38
NC_000019.9:g.853278_853283del , CM000681.1:g.853278_853283del	GRCh37
NC_000019.8:g.804278_804283del	NCBI36
NG_009627.1:g.5988_5993del , LRG_57:g.5988_5993del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.241_246del MANE Select	ENSP00000263621.1:p.Arg81_Val82del
ENST00000263621.1:c.241_246del	ENSP00000263621.1:p.Arg81_Val82del
ENST00000590230.5:c.241_246del	ENSP00000466090.1:p.Arg81_Val82del
NM_001972.2:c.241_246del , LRG_57t1:c.241_246del	NP_001963.1:p.Arg81_Val82del
XM_011527775.1:c.241_246del	XP_011526077.1:p.Arg81_Val82del
XM_011527776.1:c.241_246del	XP_011526078.1:p.Arg81_Val82del
NM_001972.3:c.241_246del	NP_001963.1:p.Arg81_Val82del
NM_001972.4:c.241_246del MANE Select	NP_001963.1:p.Arg81_Val82del