Canonical Allele Identifier: CA2587805076

Gene: ELANE

Linked Data

• gnomAD v4: 19-853328-G-GGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853331_853332dup , CM000681.2:g.853331_853332dup	GRCh38
NC_000019.9:g.853331_853332dup , CM000681.1:g.853331_853332dup	GRCh37
NC_000019.8:g.804331_804332dup	NCBI36
NG_009627.1:g.6041_6042dup , LRG_57:g.6041_6042dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.294_295dup MANE Select	ENSP00000263621.1:p.Phe99CysfsTer15
ENST00000263621.1:c.294_295dup	ENSP00000263621.1:p.Phe99CysfsTer15
ENST00000590230.5:c.294_295dup	ENSP00000466090.1:p.Phe99CysfsTer15
NM_001972.2:c.294_295dup , LRG_57t1:c.294_295dup	NP_001963.1:p.Phe99CysfsTer15
XM_011527775.1:c.294_295dup	XP_011526077.1:p.Phe99CysfsTer15
XM_011527776.1:c.294_295dup	XP_011526078.1:p.Phe99CysfsTer15
NM_001972.3:c.294_295dup	NP_001963.1:p.Phe99CysfsTer15
NM_001972.4:c.294_295dup MANE Select	NP_001963.1:p.Phe99CysfsTer15