Canonical Allele Identifier: CA2587805545

Gene: ELANE

Linked Data

• gnomAD v4: 19-856233-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.856233_856234insA , CM000681.2:g.856233_856234insA	GRCh38
NC_000019.9:g.856233_856234insA , CM000681.1:g.856233_856234insA	GRCh37
NC_000019.8:g.807233_807234insA	NCBI36
NG_007274.1:g.1569_1570insA , LRG_46:g.1569_1570insA
NG_009627.1:g.8943_8944insA , LRG_57:g.8943_8944insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.*69_*70insA MANE Select	ENSP00000263621.1:n.*69_*70insA
ENST00000263621.1:c.*69_*70insA	ENSP00000263621.1:n.*69_*70insA
ENST00000590230.5:c.*69_*70insA	ENSP00000466090.1:n.*69_*70insA
NM_001972.2:c.*69_*70insA , LRG_57t1:c.*69_*70insA	NP_001963.1:n.*69_*70insA
XM_011527775.1:c.*69_*70insA	XP_011526077.1:n.*69_*70insA
XM_011527776.1:c.*69_*70insA	XP_011526078.1:n.*69_*70insA
NM_001972.3:c.*69_*70insA	NP_001963.1:n.*69_*70insA
NM_001972.4:c.*69_*70insA MANE Select	NP_001963.1:n.*69_*70insA