Canonical Allele Identifier: CA2587804784

Gene: ELANE

Linked Data

• gnomAD v4: 19-852809-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.852813del , CM000681.2:g.852813del	GRCh38
NC_000019.9:g.852813del , CM000681.1:g.852813del	GRCh37
NC_000019.8:g.803813del	NCBI36
NG_009627.1:g.5523del , LRG_57:g.5523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.68-63del MANE Select	ENSP00000263621.1:n.68-63del
ENST00000263621.1:c.68-63del	ENSP00000263621.1:n.68-63del
ENST00000590230.5:c.68-63del	ENSP00000466090.1:n.68-63del
NM_001972.2:c.68-63del , LRG_57t1:c.68-63del	NP_001963.1:n.68-63del
XM_011527775.1:c.68-63del	XP_011526077.1:n.68-63del
XM_011527776.1:c.68-63del	XP_011526078.1:n.68-63del
NM_001972.3:c.68-63del	NP_001963.1:n.68-63del
NM_001972.4:c.68-63del MANE Select	NP_001963.1:n.68-63del