Canonical Allele Identifier: CA2587805360

Gene: ELANE

Linked Data

• gnomAD v4: 19-855859-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855860del , CM000681.2:g.855860del	GRCh38
NC_000019.9:g.855860del , CM000681.1:g.855860del	GRCh37
NC_000019.8:g.806860del	NCBI36
NG_007274.1:g.1196del , LRG_46:g.1196del
NG_009627.1:g.8570del , LRG_57:g.8570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.597+66del MANE Select	ENSP00000263621.1:n.597+66del
ENST00000263621.1:c.597+66del	ENSP00000263621.1:n.597+66del
ENST00000590230.5:c.597+66del	ENSP00000466090.1:n.597+66del
NM_001972.2:c.597+66del , LRG_57t1:c.597+66del	NP_001963.1:n.597+66del
XM_011527775.1:c.597+66del	XP_011526077.1:n.597+66del
XM_011527776.1:c.597+66del	XP_011526078.1:n.597+66del
NM_001972.3:c.597+66del	NP_001963.1:n.597+66del
NM_001972.4:c.597+66del MANE Select	NP_001963.1:n.597+66del