Canonical Allele Identifier: CA631007838

Gene: ELANE

Linked Data

• dbSNP Id: rs1773819953
• gnomAD v2: 19-853420-C-CG
• gnomAD v4: 19-853420-C-CG
• MyVariant Identifiers: chr19:g.853420_853421insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853426dup , CM000681.2:g.853426dup	GRCh38
NC_000019.9:g.853426dup , CM000681.1:g.853426dup	GRCh37
NC_000019.8:g.804426dup	NCBI36
NG_009627.1:g.6136dup , LRG_57:g.6136dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.366+23dup MANE Select	ENSP00000263621.1:n.366+23dup
ENST00000263621.1:c.366+23dup	ENSP00000263621.1:n.366+23dup
ENST00000590230.5:c.366+23dup	ENSP00000466090.1:n.366+23dup
NM_001972.2:c.366+23dup , LRG_57t1:c.366+23dup	NP_001963.1:n.366+23dup
XM_011527775.1:c.366+23dup	XP_011526077.1:n.366+23dup
XM_011527776.1:c.366+23dup	XP_011526078.1:n.366+23dup
NM_001972.3:c.366+23dup	NP_001963.1:n.366+23dup
NM_001972.4:c.366+23dup MANE Select	NP_001963.1:n.366+23dup