Canonical Allele Identifier: CA2587805317

Gene: ELANE

Linked Data

• gnomAD v4: 19-855646-A-AGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855648_855649dup , CM000681.2:g.855648_855649dup	GRCh38
NC_000019.9:g.855648_855649dup , CM000681.1:g.855648_855649dup	GRCh37
NC_000019.8:g.806648_806649dup	NCBI36
NG_007274.1:g.984_985dup , LRG_46:g.984_985dup
NG_009627.1:g.8358_8359dup , LRG_57:g.8358_8359dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.451_452dup MANE Select	ENSP00000263621.1:p.Leu152AlafsTer24
ENST00000263621.1:c.451_452dup	ENSP00000263621.1:p.Leu152AlafsTer24
ENST00000590230.5:c.451_452dup	ENSP00000466090.1:p.Leu152AlafsTer24
NM_001972.2:c.451_452dup , LRG_57t1:c.451_452dup	NP_001963.1:p.Leu152AlafsTer24
XM_011527775.1:c.451_452dup	XP_011526077.1:p.Leu152AlafsTer24
XM_011527776.1:c.451_452dup	XP_011526078.1:p.Leu152AlafsTer24
NM_001972.3:c.451_452dup	NP_001963.1:p.Leu152AlafsTer24
NM_001972.4:c.451_452dup MANE Select	NP_001963.1:p.Leu152AlafsTer24