Canonical Allele Identifier: CA2317361583

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855934_855935delinsTC , CM000681.2:g.855934_855935delinsTC	GRCh38
NC_000019.9:g.855934_855935delinsTC , CM000681.1:g.855934_855935delinsTC	GRCh37
NC_000019.8:g.806934_806935delinsTC	NCBI36
NG_007274.1:g.1270_1271delinsTC , LRG_46:g.1270_1271delinsTC
NG_009627.1:g.8644_8645delinsTC , LRG_57:g.8644_8645delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.598-24_598-23delinsTC MANE Select	ENSP00000263621.1:n.598-24_598-23delinsTC
ENST00000263621.1:c.598-24_598-23delinsTC	ENSP00000263621.1:n.598-24_598-23delinsTC
ENST00000590230.5:c.598-24_598-23delinsTC	ENSP00000466090.1:n.598-24_598-23delinsTC
NM_001972.2:c.598-24_598-23delinsTC , LRG_57t1:c.598-24_598-23delinsTC	NP_001963.1:n.598-24_598-23delinsTC
XM_011527775.1:c.598-24_598-23delinsTC	XP_011526077.1:n.598-24_598-23delinsTC
XM_011527776.1:c.598-24_598-23delinsTC	XP_011526078.1:n.598-24_598-23delinsTC
NM_001972.3:c.598-24_598-23delinsTC	NP_001963.1:n.598-24_598-23delinsTC
NM_001972.4:c.598-24_598-23delinsTC MANE Select	NP_001963.1:n.598-24_598-23delinsTC