Canonical Allele Identifier: CA884313013

Gene: ELANE

Linked Data

• dbSNP Id: rs1201347453
• gnomAD v4: 19-853100-AGGCCGG-A
• MyVariant Identifiers: chr19:g.853101_853106del (hg19) ; chr19:g.853101_853106del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.853110_853115del , CM000681.2:g.853110_853115del	GRCh38
NC_000019.9:g.853110_853115del , CM000681.1:g.853110_853115del	GRCh37
NC_000019.8:g.804110_804115del	NCBI36
NG_009627.1:g.5820_5825del , LRG_57:g.5820_5825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263621.2:c.224+78_224+83del MANE Select	ENSP00000263621.1:n.224+78_224+83del
ENST00000263621.1:c.224+78_224+83del	ENSP00000263621.1:n.224+78_224+83del
ENST00000590230.5:c.224+78_224+83del	ENSP00000466090.1:n.224+78_224+83del
NM_001972.2:c.224+78_224+83del , LRG_57t1:c.224+78_224+83del	NP_001963.1:n.224+78_224+83del
XM_011527775.1:c.224+78_224+83del	XP_011526077.1:n.224+78_224+83del
XM_011527776.1:c.224+78_224+83del	XP_011526078.1:n.224+78_224+83del
NM_001972.3:c.224+78_224+83del	NP_001963.1:n.224+78_224+83del
NM_001972.4:c.224+78_224+83del MANE Select	NP_001963.1:n.224+78_224+83del