Canonical Allele Identifier: CA303942925
Gene: ELANE HGNC NCBI

Linked Data

dbSNP Id: rs917425451
gnomAD v3: 19-853104-CG-C
gnomAD v4: 19-853104-CG-C
MyVariant Identifiers: chr19:g.853105del (hg19) chr19:g.853105del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.853108del , CM000681.2:g.853108del GRCh38
NC_000019.9:g.853108del , CM000681.1:g.853108del GRCh37
NC_000019.8:g.804108del NCBI36
NG_009627.1:g.5818del , LRG_57:g.5818del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263621.2:c.224+76del MANE Select ENSP00000263621.1:n.224+76del
ENST00000263621.1:c.224+76del ENSP00000263621.1:n.224+76del
ENST00000590230.5:c.224+76del ENSP00000466090.1:n.224+76del
NM_001972.2:c.224+76del , LRG_57t1:c.224+76del NP_001963.1:n.224+76del
XM_011527775.1:c.224+76del XP_011526077.1:n.224+76del
XM_011527776.1:c.224+76del XP_011526078.1:n.224+76del
NM_001972.3:c.224+76del NP_001963.1:n.224+76del
NM_001972.4:c.224+76del MANE Select NP_001963.1:n.224+76del
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