Canonical Allele Identifier: CA2587804921

Gene: ELANE

Linked Data

• gnomAD v4: 19-853089-T-TGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853091_853092dup , CM000681.2:g.853091_853092dup	GRCh38
NC_000019.9:g.853091_853092dup , CM000681.1:g.853091_853092dup	GRCh37
NC_000019.8:g.804091_804092dup	NCBI36
NG_009627.1:g.5801_5802dup , LRG_57:g.5801_5802dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.224+59_224+60dup MANE Select	ENSP00000263621.1:n.224+59_224+60dup
ENST00000263621.1:c.224+59_224+60dup	ENSP00000263621.1:n.224+59_224+60dup
ENST00000590230.5:c.224+59_224+60dup	ENSP00000466090.1:n.224+59_224+60dup
NM_001972.2:c.224+59_224+60dup , LRG_57t1:c.224+59_224+60dup	NP_001963.1:n.224+59_224+60dup
XM_011527775.1:c.224+59_224+60dup	XP_011526077.1:n.224+59_224+60dup
XM_011527776.1:c.224+59_224+60dup	XP_011526078.1:n.224+59_224+60dup
NM_001972.3:c.224+59_224+60dup	NP_001963.1:n.224+59_224+60dup
NM_001972.4:c.224+59_224+60dup MANE Select	NP_001963.1:n.224+59_224+60dup