Canonical Allele Identifier: CA2317361587

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855939_855940delinsAC , CM000681.2:g.855939_855940delinsAC	GRCh38
NC_000019.9:g.855939_855940delinsAC , CM000681.1:g.855939_855940delinsAC	GRCh37
NC_000019.8:g.806939_806940delinsAC	NCBI36
NG_007274.1:g.1275_1276delinsAC , LRG_46:g.1275_1276delinsAC
NG_009627.1:g.8649_8650delinsAC , LRG_57:g.8649_8650delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.598-19_598-18delinsAC MANE Select	ENSP00000263621.1:n.598-19_598-18delinsAC
ENST00000263621.1:c.598-19_598-18delinsAC	ENSP00000263621.1:n.598-19_598-18delinsAC
ENST00000590230.5:c.598-19_598-18delinsAC	ENSP00000466090.1:n.598-19_598-18delinsAC
NM_001972.2:c.598-19_598-18delinsAC , LRG_57t1:c.598-19_598-18delinsAC	NP_001963.1:n.598-19_598-18delinsAC
XM_011527775.1:c.598-19_598-18delinsAC	XP_011526077.1:n.598-19_598-18delinsAC
XM_011527776.1:c.598-19_598-18delinsAC	XP_011526078.1:n.598-19_598-18delinsAC
NM_001972.3:c.598-19_598-18delinsAC	NP_001963.1:n.598-19_598-18delinsAC
NM_001972.4:c.598-19_598-18delinsAC MANE Select	NP_001963.1:n.598-19_598-18delinsAC