Canonical Allele Identifier: CA2317359944
Gene: ELANE HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853192_853195delinsGGAC , CM000681.2:g.853192_853195delinsGGAC GRCh38
NC_000019.9:g.853192_853195delinsGGAC , CM000681.1:g.853192_853195delinsGGAC GRCh37
NC_000019.8:g.804192_804195delinsGGAC NCBI36
NG_009627.1:g.5902_5905delinsGGAC , LRG_57:g.5902_5905delinsGGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.225-70_225-67delinsGGAC MANE Select ENSP00000263621.1:n.225-70_225-67delinsGGAC
ENST00000263621.1:c.225-70_225-67delinsGGAC ENSP00000263621.1:n.225-70_225-67delinsGGAC
ENST00000590230.5:c.225-70_225-67delinsGGAC ENSP00000466090.1:n.225-70_225-67delinsGGAC
NM_001972.2:c.225-70_225-67delinsGGAC , LRG_57t1:c.225-70_225-67delinsGGAC NP_001963.1:n.225-70_225-67delinsGGAC
XM_011527775.1:c.225-70_225-67delinsGGAC XP_011526077.1:n.225-70_225-67delinsGGAC
XM_011527776.1:c.225-70_225-67delinsGGAC XP_011526078.1:n.225-70_225-67delinsGGAC
NM_001972.3:c.225-70_225-67delinsGGAC NP_001963.1:n.225-70_225-67delinsGGAC
NM_001972.4:c.225-70_225-67delinsGGAC MANE Select NP_001963.1:n.225-70_225-67delinsGGAC
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