Canonical Allele Identifier: CA2317359870

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853131_853132delinsGT , CM000681.2:g.853131_853132delinsGT	GRCh38
NC_000019.9:g.853131_853132delinsGT , CM000681.1:g.853131_853132delinsGT	GRCh37
NC_000019.8:g.804131_804132delinsGT	NCBI36
NG_009627.1:g.5841_5842delinsGT , LRG_57:g.5841_5842delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.224+99_224+100delinsGT MANE Select	ENSP00000263621.1:n.224+99_224+100delinsGT
ENST00000263621.1:c.224+99_224+100delinsGT	ENSP00000263621.1:n.224+99_224+100delinsGT
ENST00000590230.5:c.224+99_224+100delinsGT	ENSP00000466090.1:n.224+99_224+100delinsGT
NM_001972.2:c.224+99_224+100delinsGT , LRG_57t1:c.224+99_224+100delinsGT	NP_001963.1:n.224+99_224+100delinsGT
XM_011527775.1:c.224+99_224+100delinsGT	XP_011526077.1:n.224+99_224+100delinsGT
XM_011527776.1:c.224+99_224+100delinsGT	XP_011526078.1:n.224+99_224+100delinsGT
NM_001972.3:c.224+99_224+100delinsGT	NP_001963.1:n.224+99_224+100delinsGT
NM_001972.4:c.224+99_224+100delinsGT MANE Select	NP_001963.1:n.224+99_224+100delinsGT