Canonical Allele Identifier: CA2686596927
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24956594-AGGAT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956601_24956604del , CM000670.2:g.24956601_24956604del GRCh38
NC_000008.10:g.24814115_24814118del , CM000670.1:g.24814115_24814118del GRCh37
NC_000008.9:g.24870032_24870035del NCBI36
NG_008492.1:g.5020_5023del , LRG_259:g.5020_5023del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.-83_-80del MANE Select ENSP00000482169.2:n.-83_-80del
ENST00000610854.1:c.-83_-80del ENSP00000482169.1:n.-83_-80del
ENST00000615973.1:n.124_127del
ENST00000619417.1:c.-83_-80del ENSP00000483690.1:n.-83_-80del
NM_006158.4:c.-83_-80del , LRG_259t1:c.-83_-80del NP_006149.2:n.-83_-80del
NM_006158.5:c.-83_-80del MANE Select NP_006149.2:n.-83_-80del
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