Canonical Allele Identifier: CA2582306276

Gene: ELANE

Linked Data

• dbSNP Id: rs2145149305
• gnomAD v3: 19-855891-C-CGTTAA
• gnomAD v4: 19-855891-C-CGTTAA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855891_855892insGTTAA , CM000681.2:g.855891_855892insGTTAA	GRCh38
NC_000019.9:g.855891_855892insGTTAA , CM000681.1:g.855891_855892insGTTAA	GRCh37
NC_000019.8:g.806891_806892insGTTAA	NCBI36
NG_007274.1:g.1227_1228insGTTAA , LRG_46:g.1227_1228insGTTAA
NG_009627.1:g.8601_8602insGTTAA , LRG_57:g.8601_8602insGTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.598-67_598-66insGTTAA MANE Select	ENSP00000263621.1:n.598-67_598-66insGTTAA
ENST00000263621.1:c.598-67_598-66insGTTAA	ENSP00000263621.1:n.598-67_598-66insGTTAA
ENST00000590230.5:c.598-67_598-66insGTTAA	ENSP00000466090.1:n.598-67_598-66insGTTAA
NM_001972.2:c.598-67_598-66insGTTAA , LRG_57t1:c.598-67_598-66insGTTAA	NP_001963.1:n.598-67_598-66insGTTAA
XM_011527775.1:c.598-67_598-66insGTTAA	XP_011526077.1:n.598-67_598-66insGTTAA
XM_011527776.1:c.598-67_598-66insGTTAA	XP_011526078.1:n.598-67_598-66insGTTAA
NM_001972.3:c.598-67_598-66insGTTAA	NP_001963.1:n.598-67_598-66insGTTAA
NM_001972.4:c.598-67_598-66insGTTAA MANE Select	NP_001963.1:n.598-67_598-66insGTTAA