Canonical Allele Identifier: CA2317361537
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs2035672018
gnomAD v4: 19-855884-CCCAACCCTGA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.855886_855895del , CM000681.2:g.855886_855895del GRCh38
NC_000019.9:g.855886_855895del , CM000681.1:g.855886_855895del GRCh37
NC_000019.8:g.806886_806895del NCBI36
NG_007274.1:g.1222_1231del , LRG_46:g.1222_1231del
NG_009627.1:g.8596_8605del , LRG_57:g.8596_8605del

Transcript Alleles

HGVS Amino-acid change
ENST00000263621.2:c.598-72_598-63del MANE Select ENSP00000263621.1:n.598-72_598-63del
ENST00000263621.1:c.598-72_598-63del ENSP00000263621.1:n.598-72_598-63del
ENST00000590230.5:c.598-72_598-63del ENSP00000466090.1:n.598-72_598-63del
NM_001972.2:c.598-72_598-63del , LRG_57t1:c.598-72_598-63del NP_001963.1:n.598-72_598-63del
XM_011527775.1:c.598-72_598-63del XP_011526077.1:n.598-72_598-63del
XM_011527776.1:c.598-72_598-63del XP_011526078.1:n.598-72_598-63del
NM_001972.3:c.598-72_598-63del NP_001963.1:n.598-72_598-63del
NM_001972.4:c.598-72_598-63del MANE Select NP_001963.1:n.598-72_598-63del
Search 100 bp 5'
Search 100 bp 3'