Canonical Allele Identifier: CA2587804961
Gene: ELANE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853122_853123del , CM000681.2:g.853122_853123del GRCh38
NC_000019.9:g.853122_853123del , CM000681.1:g.853122_853123del GRCh37
NC_000019.8:g.804122_804123del NCBI36
NG_009627.1:g.5832_5833del , LRG_57:g.5832_5833del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.224+90_224+91del MANE Select ENSP00000263621.1:n.224+90_224+91del
ENST00000263621.1:c.224+90_224+91del ENSP00000263621.1:n.224+90_224+91del
ENST00000590230.5:c.224+90_224+91del ENSP00000466090.1:n.224+90_224+91del
NM_001972.2:c.224+90_224+91del , LRG_57t1:c.224+90_224+91del NP_001963.1:n.224+90_224+91del
XM_011527775.1:c.224+90_224+91del XP_011526077.1:n.224+90_224+91del
XM_011527776.1:c.224+90_224+91del XP_011526078.1:n.224+90_224+91del
NM_001972.3:c.224+90_224+91del NP_001963.1:n.224+90_224+91del
NM_001972.4:c.224+90_224+91del MANE Select NP_001963.1:n.224+90_224+91del