Canonical Allele Identifier: CA2587805073

Gene: ELANE

Linked Data

• gnomAD v4: 19-853271-C-CGCGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853276_853280dup , CM000681.2:g.853276_853280dup	GRCh38
NC_000019.9:g.853276_853280dup , CM000681.1:g.853276_853280dup	GRCh37
NC_000019.8:g.804276_804280dup	NCBI36
NG_009627.1:g.5986_5990dup , LRG_57:g.5986_5990dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.239_243dup MANE Select	ENSP00000263621.1:p.Val82CysfsTer?
ENST00000263621.1:c.239_243dup	ENSP00000263621.1:p.Val82CysfsTer?
ENST00000590230.5:c.239_243dup	ENSP00000466090.1:p.Val82CysfsTer?
NM_001972.2:c.239_243dup , LRG_57t1:c.239_243dup	NP_001963.1:p.Val82CysfsTer?
XM_011527775.1:c.239_243dup	XP_011526077.1:p.Val82CysfsTer?
XM_011527776.1:c.239_243dup	XP_011526078.1:p.Val82CysfsTer?
NM_001972.3:c.239_243dup	NP_001963.1:p.Val82CysfsTer?
NM_001972.4:c.239_243dup MANE Select	NP_001963.1:p.Val82CysfsTer?