Canonical Allele Identifier: CA2317361534

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855884_855894delinsCCCAACCCTGA , CM000681.2:g.855884_855894delinsCCCAACCCTGA	GRCh38
NC_000019.9:g.855884_855894delinsCCCAACCCTGA , CM000681.1:g.855884_855894delinsCCCAACCCTGA	GRCh37
NC_000019.8:g.806884_806894delinsCCCAACCCTGA	NCBI36
NG_007274.1:g.1220_1230delinsCCCAACCCTGA , LRG_46:g.1220_1230delinsCCCAACCCTGA
NG_009627.1:g.8594_8604delinsCCCAACCCTGA , LRG_57:g.8594_8604delinsCCCAACCCTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.598-74_598-64delinsCCCAACCCTGA MANE Select	ENSP00000263621.1:n.598-74_598-64delinsCCCAACCCTGA
ENST00000263621.1:c.598-74_598-64delinsCCCAACCCTGA	ENSP00000263621.1:n.598-74_598-64delinsCCCAACCCTGA
ENST00000590230.5:c.598-74_598-64delinsCCCAACCCTGA	ENSP00000466090.1:n.598-74_598-64delinsCCCAACCCTGA
NM_001972.2:c.598-74_598-64delinsCCCAACCCTGA , LRG_57t1:c.598-74_598-64delinsCCCAACCCTGA	NP_001963.1:n.598-74_598-64delinsCCCAACCCTGA
XM_011527775.1:c.598-74_598-64delinsCCCAACCCTGA	XP_011526077.1:n.598-74_598-64delinsCCCAACCCTGA
XM_011527776.1:c.598-74_598-64delinsCCCAACCCTGA	XP_011526078.1:n.598-74_598-64delinsCCCAACCCTGA
NM_001972.3:c.598-74_598-64delinsCCCAACCCTGA	NP_001963.1:n.598-74_598-64delinsCCCAACCCTGA
NM_001972.4:c.598-74_598-64delinsCCCAACCCTGA MANE Select	NP_001963.1:n.598-74_598-64delinsCCCAACCCTGA