Canonical Allele Identifier: CA2686596929
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24956689-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956691del , CM000670.2:g.24956691del GRCh38
NC_000008.10:g.24814205del , CM000670.1:g.24814205del GRCh37
NC_000008.9:g.24870122del NCBI36
NG_008492.1:g.4928del , LRG_259:g.4928del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-175del ENSP00000482169.1:n.-175del
ENST00000615973.1:n.32del
NM_006158.4:c.-175del , LRG_259t1:c.-175del NP_006149.2:n.-175del
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