Canonical Allele Identifier: CA2587804929

Gene: ELANE

Linked Data

• gnomAD v4: 19-853093-T-TGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853099_853100insGGGGGGG , CM000681.2:g.853099_853100insGGGGGGG	GRCh38
NC_000019.9:g.853099_853100insGGGGGGG , CM000681.1:g.853099_853100insGGGGGGG	GRCh37
NC_000019.8:g.804099_804100insGGGGGGG	NCBI36
NG_009627.1:g.5809_5810insGGGGGGG , LRG_57:g.5809_5810insGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.224+67_224+68insGGGGGGG MANE Select	ENSP00000263621.1:n.224+67_224+68insGGGGGGG
ENST00000263621.1:c.224+67_224+68insGGGGGGG	ENSP00000263621.1:n.224+67_224+68insGGGGGGG
ENST00000590230.5:c.224+67_224+68insGGGGGGG	ENSP00000466090.1:n.224+67_224+68insGGGGGGG
NM_001972.2:c.224+67_224+68insGGGGGGG , LRG_57t1:c.224+67_224+68insGGGGGGG	NP_001963.1:n.224+67_224+68insGGGGGGG
XM_011527775.1:c.224+67_224+68insGGGGGGG	XP_011526077.1:n.224+67_224+68insGGGGGGG
XM_011527776.1:c.224+67_224+68insGGGGGGG	XP_011526078.1:n.224+67_224+68insGGGGGGG
NM_001972.3:c.224+67_224+68insGGGGGGG	NP_001963.1:n.224+67_224+68insGGGGGGG
NM_001972.4:c.224+67_224+68insGGGGGGG MANE Select	NP_001963.1:n.224+67_224+68insGGGGGGG