Canonical Allele Identifier: CA2716801980
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs2117250250
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952454_24952455del , CM000670.2:g.24952454_24952455del GRCh38
NC_000008.10:g.24809967_24809968del , CM000670.1:g.24809967_24809968del GRCh37
NC_000008.9:g.24865884_24865885del NCBI36
NG_008492.1:g.9163_9164del , LRG_259:g.9163_9164del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.*355_*356del MANE Select ENSP00000482169.2:n.*355_*356del
ENST00000610854.1:c.*355_*356del ENSP00000482169.1:n.*355_*356del
ENST00000619417.1:c.*852_*853del ENSP00000483690.1:n.*852_*853del
NM_006158.4:c.*355_*356del , LRG_259t1:c.*355_*356del NP_006149.2:n.*355_*356del
NM_006158.5:c.*355_*356del MANE Select NP_006149.2:n.*355_*356del
Search 100 bp 5'
Search 100 bp 3'