Canonical Allele Identifier: CA2587805315

Gene: ELANE

Linked Data

• gnomAD v4: 19-855623-ACGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855628_855630del , CM000681.2:g.855628_855630del	GRCh38
NC_000019.9:g.855628_855630del , CM000681.1:g.855628_855630del	GRCh37
NC_000019.8:g.806628_806630del	NCBI36
NG_007274.1:g.964_966del , LRG_46:g.964_966del
NG_009627.1:g.8338_8340del , LRG_57:g.8338_8340del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.431_433del MANE Select	ENSP00000263621.1:p.Arg144del
ENST00000263621.1:c.431_433del	ENSP00000263621.1:p.Arg144del
ENST00000590230.5:c.431_433del	ENSP00000466090.1:p.Arg144del
NM_001972.2:c.431_433del , LRG_57t1:c.431_433del	NP_001963.1:p.Arg144del
XM_011527775.1:c.431_433del	XP_011526077.1:p.Arg144del
XM_011527776.1:c.431_433del	XP_011526078.1:p.Arg144del
NM_001972.3:c.431_433del	NP_001963.1:p.Arg144del
NM_001972.4:c.431_433del MANE Select	NP_001963.1:p.Arg144del