Canonical Allele Identifier: CA2587805069

Gene: ELANE

Linked Data

• gnomAD v4: 19-853256-C-CGGCAGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853257_853263dup , CM000681.2:g.853257_853263dup	GRCh38
NC_000019.9:g.853257_853263dup , CM000681.1:g.853257_853263dup	GRCh37
NC_000019.8:g.804257_804263dup	NCBI36
NG_009627.1:g.5967_5973dup , LRG_57:g.5967_5973dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.225-5_226dup
ENST00000263621.1:c.225-5_226dup
ENST00000590230.5:c.225-5_226dup
NM_001972.2:c.225-5_226dup , LRG_57t1:c.225-5_226dup
XM_011527775.1:c.225-5_226dup
XM_011527776.1:c.225-5_226dup
NM_001972.3:c.225-5_226dup
NM_001972.4:c.225-5_226dup