Canonical Allele Identifier: CA2317361588

Gene: ELANE

Linked Data

• ClinVar Variation Id: 2923122
• ClinVar RCV Id: RCV003780240
• dbSNP Id: rs2035673087
• gnomAD v4: 19-855939-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855941del , CM000681.2:g.855941del	GRCh38
NC_000019.9:g.855941del , CM000681.1:g.855941del	GRCh37
NC_000019.8:g.806941del	NCBI36
NG_007274.1:g.1277del , LRG_46:g.1277del
NG_009627.1:g.8651del , LRG_57:g.8651del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.598-17del MANE Select	ENSP00000263621.1:n.598-17del
ENST00000263621.1:c.598-17del	ENSP00000263621.1:n.598-17del
ENST00000590230.5:c.598-17del	ENSP00000466090.1:n.598-17del
NM_001972.2:c.598-17del , LRG_57t1:c.598-17del	NP_001963.1:n.598-17del
XM_011527775.1:c.598-17del	XP_011526077.1:n.598-17del
XM_011527776.1:c.598-17del	XP_011526078.1:n.598-17del
NM_001972.3:c.598-17del	NP_001963.1:n.598-17del
NM_001972.4:c.598-17del MANE Select	NP_001963.1:n.598-17del