Canonical Allele Identifier: CA2695227822

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856029_856030delinsA , CM000681.2:g.856029_856030delinsA	GRCh38
NC_000019.9:g.856029_856030delinsA , CM000681.1:g.856029_856030delinsA	GRCh37
NC_000019.8:g.807029_807030delinsA	NCBI36
NG_007274.1:g.1365_1366delinsA , LRG_46:g.1365_1366delinsA
NG_009627.1:g.8739_8740delinsA , LRG_57:g.8739_8740delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.669_670delinsA MANE Select	ENSP00000263621.1:p.Cys223Ter
ENST00000263621.1:c.669_670delinsA	ENSP00000263621.1:p.Cys223Ter
ENST00000590230.5:c.669_670delinsA	ENSP00000466090.1:p.Cys223Ter
NM_001972.2:c.669_670delinsA , LRG_57t1:c.669_670delinsA	NP_001963.1:p.Cys223Ter
XM_011527775.1:c.669_670delinsA	XP_011526077.1:p.Cys223Ter
XM_011527776.1:c.669_670delinsA	XP_011526078.1:p.Cys223Ter
NM_001972.3:c.669_670delinsA	NP_001963.1:p.Cys223Ter
NM_001972.4:c.669_670delinsA MANE Select	NP_001963.1:p.Cys223Ter