Canonical Allele Identifier: CA920034573

Gene: ELANE

Linked Data

• dbSNP Id: rs1568304356

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853266dup , CM000681.2:g.853266dup	GRCh38
NC_000019.9:g.853266dup , CM000681.1:g.853266dup	GRCh37
NC_000019.8:g.804266dup	NCBI36
NG_009627.1:g.5976dup , LRG_57:g.5976dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.229dup MANE Select	ENSP00000263621.1:p.Val77GlyfsTer12
ENST00000263621.1:c.229dup	ENSP00000263621.1:p.Val77GlyfsTer12
ENST00000590230.5:c.229dup	ENSP00000466090.1:p.Val77GlyfsTer12
NM_001972.2:c.229dup , LRG_57t1:c.229dup	NP_001963.1:p.Val77GlyfsTer12
XM_011527775.1:c.229dup	XP_011526077.1:p.Val77GlyfsTer12
XM_011527776.1:c.229dup	XP_011526078.1:p.Val77GlyfsTer12
NM_001972.3:c.229dup	NP_001963.1:p.Val77GlyfsTer12
NM_001972.4:c.229dup MANE Select	NP_001963.1:p.Val77GlyfsTer12