Canonical Allele Identifier: CA2587804928

Gene: ELANE

Linked Data

• gnomAD v4: 19-853093-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853098_853099del , CM000681.2:g.853098_853099del	GRCh38
NC_000019.9:g.853098_853099del , CM000681.1:g.853098_853099del	GRCh37
NC_000019.8:g.804098_804099del	NCBI36
NG_009627.1:g.5808_5809del , LRG_57:g.5808_5809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.224+66_224+67del MANE Select	ENSP00000263621.1:n.224+66_224+67del
ENST00000263621.1:c.224+66_224+67del	ENSP00000263621.1:n.224+66_224+67del
ENST00000590230.5:c.224+66_224+67del	ENSP00000466090.1:n.224+66_224+67del
NM_001972.2:c.224+66_224+67del , LRG_57t1:c.224+66_224+67del	NP_001963.1:n.224+66_224+67del
XM_011527775.1:c.224+66_224+67del	XP_011526077.1:n.224+66_224+67del
XM_011527776.1:c.224+66_224+67del	XP_011526078.1:n.224+66_224+67del
NM_001972.3:c.224+66_224+67del	NP_001963.1:n.224+66_224+67del
NM_001972.4:c.224+66_224+67del MANE Select	NP_001963.1:n.224+66_224+67del