Canonical Allele Identifier: CA2317360118

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.852938_852949delinsATGGTGTCCCTG , CM000681.2:g.852938_852949delinsATGGTGTCCCTG	GRCh38
NC_000019.9:g.852938_852949delinsATGGTGTCCCTG , CM000681.1:g.852938_852949delinsATGGTGTCCCTG	GRCh37
NC_000019.8:g.803938_803949delinsATGGTGTCCCTG	NCBI36
NG_009627.1:g.5648_5659delinsATGGTGTCCCTG , LRG_57:g.5648_5659delinsATGGTGTCCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.130_141delinsATGGTGTCCCTG MANE Select	ENSP00000263621.1:p.Met44=
ENST00000263621.1:c.130_141delinsATGGTGTCCCTG	ENSP00000263621.1:p.Met44=
ENST00000590230.5:c.130_141delinsATGGTGTCCCTG	ENSP00000466090.1:p.Met44=
NM_001972.2:c.130_141delinsATGGTGTCCCTG , LRG_57t1:c.130_141delinsATGGTGTCCCTG	NP_001963.1:p.Met44=
XM_011527775.1:c.130_141delinsATGGTGTCCCTG	XP_011526077.1:p.Met44=
XM_011527776.1:c.130_141delinsATGGTGTCCCTG	XP_011526078.1:p.Met44=
NM_001972.3:c.130_141delinsATGGTGTCCCTG	NP_001963.1:p.Met44=
NM_001972.4:c.130_141delinsATGGTGTCCCTG MANE Select	NP_001963.1:p.Met44=