Canonical Allele Identifier: CA915940660

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855790del , CM000681.2:g.855790del	GRCh38
NC_000019.9:g.855790del , CM000681.1:g.855790del	GRCh37
NC_000019.8:g.806790del	NCBI36
NG_007274.1:g.1126del , LRG_46:g.1126del
NG_009627.1:g.8500del , LRG_57:g.8500del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.593del MANE Select	ENSP00000263621.1:p.Cys198PhefsTer14
ENST00000263621.1:c.593del	ENSP00000263621.1:p.Cys198PhefsTer14
ENST00000590230.5:c.593del	ENSP00000466090.1:p.Cys198PhefsTer14
NM_001972.2:c.593del , LRG_57t1:c.593del	NP_001963.1:p.Cys198PhefsTer14
XM_011527775.1:c.593del	XP_011526077.1:p.Cys198PhefsTer14
XM_011527776.1:c.593del	XP_011526078.1:p.Cys198PhefsTer14
NM_001972.3:c.593del	NP_001963.1:p.Cys198PhefsTer14
NM_001972.4:c.593del MANE Select	NP_001963.1:p.Cys198PhefsTer14