Canonical Allele Identifier: CA2695227791

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853370_853373dup , CM000681.2:g.853370_853373dup	GRCh38
NC_000019.9:g.853370_853373dup , CM000681.1:g.853370_853373dup	GRCh37
NC_000019.8:g.804370_804373dup	NCBI36
NG_009627.1:g.6080_6083dup , LRG_57:g.6080_6083dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.333_336dup MANE Select	ENSP00000263621.1:p.Asn113ArgfsTer?
ENST00000263621.1:c.333_336dup	ENSP00000263621.1:p.Asn113ArgfsTer?
ENST00000590230.5:c.333_336dup	ENSP00000466090.1:p.Asn113ArgfsTer?
NM_001972.2:c.333_336dup , LRG_57t1:c.333_336dup	NP_001963.1:p.Asn113ArgfsTer?
XM_011527775.1:c.333_336dup	XP_011526077.1:p.Asn113ArgfsTer?
XM_011527776.1:c.333_336dup	XP_011526078.1:p.Asn113ArgfsTer?
NM_001972.3:c.333_336dup	NP_001963.1:p.Asn113ArgfsTer?
NM_001972.4:c.333_336dup MANE Select	NP_001963.1:p.Asn113ArgfsTer?