Canonical Allele Identifier: CA303944584

Gene: ELANE

Linked Data

• dbSNP Id: rs769304164
• gnomAD v3: 19-855511-GTCA-G
• gnomAD v4: 19-855511-GTCA-G
• MyVariant Identifiers: chr19:g.855512_855514del (hg19) ; chr19:g.855512_855514del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855518_855520del , CM000681.2:g.855518_855520del	GRCh38
NC_000019.9:g.855518_855520del , CM000681.1:g.855518_855520del	GRCh37
NC_000019.8:g.806518_806520del	NCBI36
NG_007274.1:g.854_856del , LRG_46:g.854_856del
NG_009627.1:g.8228_8230del , LRG_57:g.8228_8230del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.367-46_367-44del MANE Select	ENSP00000263621.1:n.367-46_367-44del
ENST00000263621.1:c.367-46_367-44del	ENSP00000263621.1:n.367-46_367-44del
ENST00000590230.5:c.367-46_367-44del	ENSP00000466090.1:n.367-46_367-44del
NM_001972.2:c.367-46_367-44del , LRG_57t1:c.367-46_367-44del	NP_001963.1:n.367-46_367-44del
XM_011527775.1:c.367-46_367-44del	XP_011526077.1:n.367-46_367-44del
XM_011527776.1:c.367-46_367-44del	XP_011526078.1:n.367-46_367-44del
NM_001972.3:c.367-46_367-44del	NP_001963.1:n.367-46_367-44del
NM_001972.4:c.367-46_367-44del MANE Select	NP_001963.1:n.367-46_367-44del