Canonical Allele Identifier: CA2686596924
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24956584-GGGA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956585_24956587del , CM000670.2:g.24956585_24956587del GRCh38
NC_000008.10:g.24814099_24814101del , CM000670.1:g.24814099_24814101del GRCh37
NC_000008.9:g.24870016_24870018del NCBI36
NG_008492.1:g.5031_5033del , LRG_259:g.5031_5033del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.-72_-70del MANE Select ENSP00000482169.2:n.-72_-70del
ENST00000610854.1:c.-72_-70del ENSP00000482169.1:n.-72_-70del
ENST00000615973.1:n.135_137del
ENST00000619417.1:c.-72_-70del ENSP00000483690.1:n.-72_-70del
NM_006158.4:c.-72_-70del , LRG_259t1:c.-72_-70del NP_006149.2:n.-72_-70del
NM_006158.5:c.-72_-70del MANE Select NP_006149.2:n.-72_-70del
Search 100 bp 5'
Search 100 bp 3'