Canonical Allele Identifier: CA992485949
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs2035620203

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853117_853144del , CM000681.2:g.853117_853144del GRCh38
NC_000019.9:g.853117_853144del , CM000681.1:g.853117_853144del GRCh37
NC_000019.8:g.804117_804144del NCBI36
NG_009627.1:g.5827_5854del , LRG_57:g.5827_5854del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.224+85_224+112del MANE Select ENSP00000263621.1:n.224+85_224+112del
ENST00000263621.1:c.224+85_224+112del ENSP00000263621.1:n.224+85_224+112del
ENST00000590230.5:c.224+85_224+112del ENSP00000466090.1:n.224+85_224+112del
NM_001972.2:c.224+85_224+112del , LRG_57t1:c.224+85_224+112del NP_001963.1:n.224+85_224+112del
XM_011527775.1:c.224+85_224+112del XP_011526077.1:n.224+85_224+112del
XM_011527776.1:c.224+85_224+112del XP_011526078.1:n.224+85_224+112del
NM_001972.3:c.224+85_224+112del NP_001963.1:n.224+85_224+112del
NM_001972.4:c.224+85_224+112del MANE Select NP_001963.1:n.224+85_224+112del