Canonical Allele Identifier: CA2686596925
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24956588-A-AG
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956593dup , CM000670.2:g.24956593dup GRCh38
NC_000008.10:g.24814107dup , CM000670.1:g.24814107dup GRCh37
NC_000008.9:g.24870024dup NCBI36
NG_008492.1:g.5029dup , LRG_259:g.5029dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.-74dup MANE Select ENSP00000482169.2:n.-74dup
ENST00000610854.1:c.-74dup ENSP00000482169.1:n.-74dup
ENST00000615973.1:n.133dup
ENST00000619417.1:c.-74dup ENSP00000483690.1:n.-74dup
NM_006158.4:c.-74dup , LRG_259t1:c.-74dup NP_006149.2:n.-74dup
NM_006158.5:c.-74dup MANE Select NP_006149.2:n.-74dup
Search 100 bp 5'
Search 100 bp 3'