Canonical Allele Identifier: CA2686596937
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24956765-CCCGAGGAGCTGCGGCGGTCGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956768_24956788del , CM000670.2:g.24956768_24956788del GRCh38
NC_000008.10:g.24814282_24814302del , CM000670.1:g.24814282_24814302del GRCh37
NC_000008.9:g.24870199_24870219del NCBI36
NG_008492.1:g.4832_4852del , LRG_259:g.4832_4852del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-271_-251del ENSP00000482169.1:n.-271_-251del
NM_006158.4:c.-271_-251del , LRG_259t1:c.-271_-251del NP_006149.2:n.-271_-251del
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