Canonical Allele Identifier: CA2317360205

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853411_853416delinsCGGGCG , CM000681.2:g.853411_853416delinsCGGGCG	GRCh38
NC_000019.9:g.853411_853416delinsCGGGCG , CM000681.1:g.853411_853416delinsCGGGCG	GRCh37
NC_000019.8:g.804411_804416delinsCGGGCG	NCBI36
NG_009627.1:g.6121_6126delinsCGGGCG , LRG_57:g.6121_6126delinsCGGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.366+8_366+13delinsCGGGCG MANE Select	ENSP00000263621.1:n.366+8_366+13delinsCGGGCG
ENST00000263621.1:c.366+8_366+13delinsCGGGCG	ENSP00000263621.1:n.366+8_366+13delinsCGGGCG
ENST00000590230.5:c.366+8_366+13delinsCGGGCG	ENSP00000466090.1:n.366+8_366+13delinsCGGGCG
NM_001972.2:c.366+8_366+13delinsCGGGCG , LRG_57t1:c.366+8_366+13delinsCGGGCG	NP_001963.1:n.366+8_366+13delinsCGGGCG
XM_011527775.1:c.366+8_366+13delinsCGGGCG	XP_011526077.1:n.366+8_366+13delinsCGGGCG
XM_011527776.1:c.366+8_366+13delinsCGGGCG	XP_011526078.1:n.366+8_366+13delinsCGGGCG
NM_001972.3:c.366+8_366+13delinsCGGGCG	NP_001963.1:n.366+8_366+13delinsCGGGCG
NM_001972.4:c.366+8_366+13delinsCGGGCG MANE Select	NP_001963.1:n.366+8_366+13delinsCGGGCG