Canonical Allele Identifier: CA2587805284

Gene: ELANE

Linked Data

• gnomAD v4: 19-855508-A-AGGGTCATCATCACTGCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.855509_855526dup , CM000681.2:g.855509_855526dup	GRCh38
NC_000019.9:g.855509_855526dup , CM000681.1:g.855509_855526dup	GRCh37
NC_000019.8:g.806509_806526dup	NCBI36
NG_007274.1:g.845_862dup , LRG_46:g.845_862dup
NG_009627.1:g.8219_8236dup , LRG_57:g.8219_8236dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000263621.2:c.367-55_367-38dup MANE Select	ENSP00000263621.1:n.367-55_367-38dup
ENST00000263621.1:c.367-55_367-38dup	ENSP00000263621.1:n.367-55_367-38dup
ENST00000590230.5:c.367-55_367-38dup	ENSP00000466090.1:n.367-55_367-38dup
NM_001972.2:c.367-55_367-38dup , LRG_57t1:c.367-55_367-38dup	NP_001963.1:n.367-55_367-38dup
XM_011527775.1:c.367-55_367-38dup	XP_011526077.1:n.367-55_367-38dup
XM_011527776.1:c.367-55_367-38dup	XP_011526078.1:n.367-55_367-38dup
NM_001972.3:c.367-55_367-38dup	NP_001963.1:n.367-55_367-38dup
NM_001972.4:c.367-55_367-38dup MANE Select	NP_001963.1:n.367-55_367-38dup