Canonical Allele Identifier: CA2740091832

Gene: ELANE

Linked Data

• ClinVar Variation Id: 2940141
• ClinVar RCV Id: RCV003797499

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855607_855613del , CM000681.2:g.855607_855613del	GRCh38
NC_000019.9:g.855607_855613del , CM000681.1:g.855607_855613del	GRCh37
NC_000019.8:g.806607_806613del	NCBI36
NG_007274.1:g.943_949del , LRG_46:g.943_949del
NG_009627.1:g.8317_8323del , LRG_57:g.8317_8323del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.410_416del MANE Select	ENSP00000263621.1:p.Gln137ArgfsTer?
ENST00000263621.1:c.410_416del	ENSP00000263621.1:p.Gln137ArgfsTer?
ENST00000590230.5:c.410_416del	ENSP00000466090.1:p.Gln137ArgfsTer?
NM_001972.2:c.410_416del , LRG_57t1:c.410_416del	NP_001963.1:p.Gln137ArgfsTer?
XM_011527775.1:c.410_416del	XP_011526077.1:p.Gln137ArgfsTer?
XM_011527776.1:c.410_416del	XP_011526078.1:p.Gln137ArgfsTer?
NM_001972.3:c.410_416del	NP_001963.1:p.Gln137ArgfsTer?
NM_001972.4:c.410_416del MANE Select	NP_001963.1:p.Gln137ArgfsTer?