Canonical Allele Identifier: CA2580096961

Gene: ELANE

Linked Data

• ClinVar Variation Id: 1693275
• ClinVar RCV Id: RCV002260543
• dbSNP Id: rs2145145135

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853326_853337dup , CM000681.2:g.853326_853337dup	GRCh38
NC_000019.9:g.853326_853337dup , CM000681.1:g.853326_853337dup	GRCh37
NC_000019.8:g.804326_804337dup	NCBI36
NG_009627.1:g.6036_6047dup , LRG_57:g.6036_6047dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.289_300dup MANE Select	ENSP00000263621.1:p.Ala100_Val101insGlnValPheAla
ENST00000263621.1:c.289_300dup	ENSP00000263621.1:p.Ala100_Val101insGlnValPheAla
ENST00000590230.5:c.289_300dup	ENSP00000466090.1:p.Ala100_Val101insGlnValPheAla
NM_001972.2:c.289_300dup , LRG_57t1:c.289_300dup	NP_001963.1:p.Ala100_Val101insGlnValPheAla
XM_011527775.1:c.289_300dup	XP_011526077.1:p.Ala100_Val101insGlnValPheAla
XM_011527776.1:c.289_300dup	XP_011526078.1:p.Ala100_Val101insGlnValPheAla
NM_001972.3:c.289_300dup	NP_001963.1:p.Ala100_Val101insGlnValPheAla
NM_001972.4:c.289_300dup MANE Select	NP_001963.1:p.Ala100_Val101insGlnValPheAla