Canonical Allele Identifier: CA2317359859

Gene: ELANE

Linked Data

• dbSNP Id: rs1753206493
• gnomAD v3: 19-853129-G-GA
• gnomAD v4: 19-853129-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853129_853130insA , CM000681.2:g.853129_853130insA	GRCh38
NC_000019.9:g.853129_853130insA , CM000681.1:g.853129_853130insA	GRCh37
NC_000019.8:g.804129_804130insA	NCBI36
NG_009627.1:g.5839_5840insA , LRG_57:g.5839_5840insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.224+97_224+98insA MANE Select	ENSP00000263621.1:n.224+97_224+98insA
ENST00000263621.1:c.224+97_224+98insA	ENSP00000263621.1:n.224+97_224+98insA
ENST00000590230.5:c.224+97_224+98insA	ENSP00000466090.1:n.224+97_224+98insA
NM_001972.2:c.224+97_224+98insA , LRG_57t1:c.224+97_224+98insA	NP_001963.1:n.224+97_224+98insA
XM_011527775.1:c.224+97_224+98insA	XP_011526077.1:n.224+97_224+98insA
XM_011527776.1:c.224+97_224+98insA	XP_011526078.1:n.224+97_224+98insA
NM_001972.3:c.224+97_224+98insA	NP_001963.1:n.224+97_224+98insA
NM_001972.4:c.224+97_224+98insA MANE Select	NP_001963.1:n.224+97_224+98insA