Canonical Allele Identifier: CA217514
Gene: NEFL HGNC NCBI
gnomAD v2:
8:24810373 TCTC / T
gnomAD v3:
8:24952860 TCTC / T
gnomAD v4:
chr8-24952860-TCTC-T
Joint Max Group AF 0.01261285 (SAS)
Genomes Max Group AF 0.00882618 (SAS)
Exomes Max Group AF 0.0127064 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952867_24952869del , CM000670.2:g.24952867_24952869del GRCh38
NC_000008.10:g.24810380_24810382del , CM000670.1:g.24810380_24810382del GRCh37
NC_000008.9:g.24866297_24866299del NCBI36
NG_008492.1:g.8755_8757del , LRG_259:g.8755_8757del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.1579_1581del MANE Select ENSP00000482169.2:p.Glu527del
ENST00000610854.1:c.1579_1581del ENSP00000482169.1:p.Glu527del
ENST00000619417.1:c.*444_*446del ENSP00000483690.1:n.*444_*446del
NM_006158.4:c.1579_1581del , LRG_259t1:c.1579_1581del NP_006149.2:p.Glu527del
NM_006158.5:c.1579_1581del MANE Select NP_006149.2:p.Glu527del
Search 100 bp 5'
Search 100 bp 3'