Canonical Allele Identifier: CA2580096960

Gene: ELANE

Linked Data

• ClinVar Variation Id: 2195571
• ClinVar RCV Id: RCV002650867

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853307_853310dup , CM000681.2:g.853307_853310dup	GRCh38
NC_000019.9:g.853307_853310dup , CM000681.1:g.853307_853310dup	GRCh37
NC_000019.8:g.804307_804310dup	NCBI36
NG_009627.1:g.6017_6020dup , LRG_57:g.6017_6020dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.270_273dup MANE Select	ENSP00000263621.1:p.Arg92AlafsTer?
ENST00000263621.1:c.270_273dup	ENSP00000263621.1:p.Arg92AlafsTer?
ENST00000590230.5:c.270_273dup	ENSP00000466090.1:p.Arg92AlafsTer?
NM_001972.2:c.270_273dup , LRG_57t1:c.270_273dup	NP_001963.1:p.Arg92AlafsTer?
XM_011527775.1:c.270_273dup	XP_011526077.1:p.Arg92AlafsTer?
XM_011527776.1:c.270_273dup	XP_011526078.1:p.Arg92AlafsTer?
NM_001972.3:c.270_273dup	NP_001963.1:p.Arg92AlafsTer?
NM_001972.4:c.270_273dup MANE Select	NP_001963.1:p.Arg92AlafsTer?