Canonical Allele Identifier: CA2740091835

Gene: ELANE

Linked Data

• ClinVar Variation Id: 2942789
• ClinVar RCV Id: RCV003807955

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855999del , CM000681.2:g.855999del	GRCh38
NC_000019.9:g.855999del , CM000681.1:g.855999del	GRCh37
NC_000019.8:g.806999del	NCBI36
NG_007274.1:g.1335del , LRG_46:g.1335del
NG_009627.1:g.8709del , LRG_57:g.8709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.639del MANE Select	ENSP00000263621.1:p.His213GlnfsTer27
ENST00000263621.1:c.639del	ENSP00000263621.1:p.His213GlnfsTer27
ENST00000590230.5:c.639del	ENSP00000466090.1:p.His213GlnfsTer27
NM_001972.2:c.639del , LRG_57t1:c.639del	NP_001963.1:p.His213GlnfsTer27
XM_011527775.1:c.639del	XP_011526077.1:p.His213GlnfsTer27
XM_011527776.1:c.639del	XP_011526078.1:p.His213GlnfsTer27
NM_001972.3:c.639del	NP_001963.1:p.His213GlnfsTer27
NM_001972.4:c.639del MANE Select	NP_001963.1:p.His213GlnfsTer27