Canonical Allele Identifier: CA2686596942
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24956833-G-GC
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956838dup , CM000670.2:g.24956838dup GRCh38
NC_000008.10:g.24814352dup , CM000670.1:g.24814352dup GRCh37
NC_000008.9:g.24870269dup NCBI36
NG_008492.1:g.4784dup , LRG_259:g.4784dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-319dup ENSP00000482169.1:n.-319dup
NM_006158.4:c.-319dup , LRG_259t1:c.-319dup NP_006149.2:n.-319dup
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