Canonical Allele Identifier: CA2587804961

Gene: ELANE

Linked Data

• gnomAD v4: 19-853120-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853122_853123del , CM000681.2:g.853122_853123del	GRCh38
NC_000019.9:g.853122_853123del , CM000681.1:g.853122_853123del	GRCh37
NC_000019.8:g.804122_804123del	NCBI36
NG_009627.1:g.5832_5833del , LRG_57:g.5832_5833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.224+90_224+91del MANE Select	ENSP00000263621.1:n.224+90_224+91del
ENST00000263621.1:c.224+90_224+91del	ENSP00000263621.1:n.224+90_224+91del
ENST00000590230.5:c.224+90_224+91del	ENSP00000466090.1:n.224+90_224+91del
NM_001972.2:c.224+90_224+91del , LRG_57t1:c.224+90_224+91del	NP_001963.1:n.224+90_224+91del
XM_011527775.1:c.224+90_224+91del	XP_011526077.1:n.224+90_224+91del
XM_011527776.1:c.224+90_224+91del	XP_011526078.1:n.224+90_224+91del
NM_001972.3:c.224+90_224+91del	NP_001963.1:n.224+90_224+91del
NM_001972.4:c.224+90_224+91del MANE Select	NP_001963.1:n.224+90_224+91del