Canonical Allele Identifier: CA2695227800

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855780_855781dup , CM000681.2:g.855780_855781dup	GRCh38
NC_000019.9:g.855780_855781dup , CM000681.1:g.855780_855781dup	GRCh37
NC_000019.8:g.806780_806781dup	NCBI36
NG_007274.1:g.1116_1117dup , LRG_46:g.1116_1117dup
NG_009627.1:g.8490_8491dup , LRG_57:g.8490_8491dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.583_584dup MANE Select	ENSP00000263621.1:p.Gly196ProfsTer17
ENST00000263621.1:c.583_584dup	ENSP00000263621.1:p.Gly196ProfsTer17
ENST00000590230.5:c.583_584dup	ENSP00000466090.1:p.Gly196ProfsTer17
NM_001972.2:c.583_584dup , LRG_57t1:c.583_584dup	NP_001963.1:p.Gly196ProfsTer17
XM_011527775.1:c.583_584dup	XP_011526077.1:p.Gly196ProfsTer17
XM_011527776.1:c.583_584dup	XP_011526078.1:p.Gly196ProfsTer17
NM_001972.3:c.583_584dup	NP_001963.1:p.Gly196ProfsTer17
NM_001972.4:c.583_584dup MANE Select	NP_001963.1:p.Gly196ProfsTer17