Canonical Allele Identifier: CA2573050341

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853122_853123delinsCG , CM000681.2:g.853122_853123delinsCG	GRCh38
NC_000019.9:g.853122_853123delinsCG , CM000681.1:g.853122_853123delinsCG	GRCh37
NC_000019.8:g.804122_804123delinsCG	NCBI36
NG_009627.1:g.5832_5833delinsCG , LRG_57:g.5832_5833delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.224+90_224+91delinsCG MANE Select	ENSP00000263621.1:n.224+90_224+91delinsCG
ENST00000263621.1:c.224+90_224+91delinsCG	ENSP00000263621.1:n.224+90_224+91delinsCG
ENST00000590230.5:c.224+90_224+91delinsCG	ENSP00000466090.1:n.224+90_224+91delinsCG
NM_001972.2:c.224+90_224+91delinsCG , LRG_57t1:c.224+90_224+91delinsCG	NP_001963.1:n.224+90_224+91delinsCG
XM_011527775.1:c.224+90_224+91delinsCG	XP_011526077.1:n.224+90_224+91delinsCG
XM_011527776.1:c.224+90_224+91delinsCG	XP_011526078.1:n.224+90_224+91delinsCG
NM_001972.3:c.224+90_224+91delinsCG	NP_001963.1:n.224+90_224+91delinsCG
NM_001972.4:c.224+90_224+91delinsCG MANE Select	NP_001963.1:n.224+90_224+91delinsCG