Canonical Allele Identifier: CA2317361484

Gene: ELANE

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855797_855801delinsACGTG , CM000681.2:g.855797_855801delinsACGTG	GRCh38
NC_000019.9:g.855797_855801delinsACGTG , CM000681.1:g.855797_855801delinsACGTG	GRCh37
NC_000019.8:g.806797_806801delinsACGTG	NCBI36
NG_007274.1:g.1133_1137delinsACGTG , LRG_46:g.1133_1137delinsACGTG
NG_009627.1:g.8507_8511delinsACGTG , LRG_57:g.8507_8511delinsACGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.597+3_597+7delinsACGTG MANE Select	ENSP00000263621.1:n.597+3_597+7delinsACGTG
ENST00000263621.1:c.597+3_597+7delinsACGTG	ENSP00000263621.1:n.597+3_597+7delinsACGTG
ENST00000590230.5:c.597+3_597+7delinsACGTG	ENSP00000466090.1:n.597+3_597+7delinsACGTG
NM_001972.2:c.597+3_597+7delinsACGTG , LRG_57t1:c.597+3_597+7delinsACGTG	NP_001963.1:n.597+3_597+7delinsACGTG
XM_011527775.1:c.597+3_597+7delinsACGTG	XP_011526077.1:n.597+3_597+7delinsACGTG
XM_011527776.1:c.597+3_597+7delinsACGTG	XP_011526078.1:n.597+3_597+7delinsACGTG
NM_001972.3:c.597+3_597+7delinsACGTG	NP_001963.1:n.597+3_597+7delinsACGTG
NM_001972.4:c.597+3_597+7delinsACGTG MANE Select	NP_001963.1:n.597+3_597+7delinsACGTG