Canonical Allele Identifier: CA2317361709

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856162_856165delinsTGAG , CM000681.2:g.856162_856165delinsTGAG	GRCh38
NC_000019.9:g.856162_856165delinsTGAG , CM000681.1:g.856162_856165delinsTGAG	GRCh37
NC_000019.8:g.807162_807165delinsTGAG	NCBI36
NG_007274.1:g.1498_1501delinsTGAG , LRG_46:g.1498_1501delinsTGAG
NG_009627.1:g.8872_8875delinsTGAG , LRG_57:g.8872_8875delinsTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.802_*1delinsTGAG MANE Select	ENSP00000263621.1:n.[c.802_*1delinsTGAG;Ter268=]
ENST00000263621.1:c.802_*1delinsTGAG	ENSP00000263621.1:n.[c.802_*1delinsTGAG;Ter268=]
ENST00000590230.5:c.802_*1delinsTGAG	ENSP00000466090.1:n.[c.802_*1delinsTGAG;Ter268=]
NM_001972.2:c.802_*1delinsTGAG , LRG_57t1:c.802_*1delinsTGAG	NP_001963.1:n.[c.802_*1delinsTGAG;Ter268=]
XM_011527775.1:c.802_*1delinsTGAG	XP_011526077.1:n.[c.802_*1delinsTGAG;Ter268=]
XM_011527776.1:c.802_*1delinsTGAG	XP_011526078.1:n.[c.802_*1delinsTGAG;Ter268=]
NM_001972.3:c.802_*1delinsTGAG	NP_001963.1:n.[c.802_*1delinsTGAG;Ter268=]
NM_001972.4:c.802_*1delinsTGAG MANE Select	NP_001963.1:n.[c.802_*1delinsTGAG;Ter268=]