Canonical Allele Identifier: CA2686596921
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24956566-G-GA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956567dup , CM000670.2:g.24956567dup GRCh38
NC_000008.10:g.24814081dup , CM000670.1:g.24814081dup GRCh37
NC_000008.9:g.24869998dup NCBI36
NG_008492.1:g.5051dup , LRG_259:g.5051dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.-52dup MANE Select ENSP00000482169.2:n.-52dup
ENST00000610854.1:c.-52dup ENSP00000482169.1:n.-52dup
ENST00000615973.1:n.155dup
ENST00000619417.1:c.-52dup ENSP00000483690.1:n.-52dup
NM_006158.4:c.-52dup , LRG_259t1:c.-52dup NP_006149.2:n.-52dup
NM_006158.5:c.-52dup MANE Select NP_006149.2:n.-52dup
Search 100 bp 5'
Search 100 bp 3'