Canonical Allele Identifier: CA850119763
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1415280791
gnomAD v3: 8-24956805-AG-A
gnomAD v4: 8-24956805-AG-A
MyVariant Identifiers: chr8:g.24814320del (hg19) chr8:g.24956806del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956808del , CM000670.2:g.24956808del GRCh38
NC_000008.10:g.24814322del , CM000670.1:g.24814322del GRCh37
NC_000008.9:g.24870239del NCBI36
NG_008492.1:g.4812del , LRG_259:g.4812del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-291del ENSP00000482169.1:n.-291del
NM_006158.4:c.-291del , LRG_259t1:c.-291del NP_006149.2:n.-291del
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