Canonical Allele Identifier: CA2317360016

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853230_853231delinsGC , CM000681.2:g.853230_853231delinsGC	GRCh38
NC_000019.9:g.853230_853231delinsGC , CM000681.1:g.853230_853231delinsGC	GRCh37
NC_000019.8:g.804230_804231delinsGC	NCBI36
NG_009627.1:g.5940_5941delinsGC , LRG_57:g.5940_5941delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.225-32_225-31delinsGC MANE Select	ENSP00000263621.1:n.225-32_225-31delinsGC
ENST00000263621.1:c.225-32_225-31delinsGC	ENSP00000263621.1:n.225-32_225-31delinsGC
ENST00000590230.5:c.225-32_225-31delinsGC	ENSP00000466090.1:n.225-32_225-31delinsGC
NM_001972.2:c.225-32_225-31delinsGC , LRG_57t1:c.225-32_225-31delinsGC	NP_001963.1:n.225-32_225-31delinsGC
XM_011527775.1:c.225-32_225-31delinsGC	XP_011526077.1:n.225-32_225-31delinsGC
XM_011527776.1:c.225-32_225-31delinsGC	XP_011526078.1:n.225-32_225-31delinsGC
NM_001972.3:c.225-32_225-31delinsGC	NP_001963.1:n.225-32_225-31delinsGC
NM_001972.4:c.225-32_225-31delinsGC MANE Select	NP_001963.1:n.225-32_225-31delinsGC