Canonical Allele Identifier: CA1111934701
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs1803065222
gnomAD v3: 8-24956772-AGCTGCG-A
gnomAD v4: 8-24956772-AGCTGCG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956775_24956780del , CM000670.2:g.24956775_24956780del GRCh38
NC_000008.10:g.24814289_24814294del , CM000670.1:g.24814289_24814294del GRCh37
NC_000008.9:g.24870206_24870211del NCBI36
NG_008492.1:g.4840_4845del , LRG_259:g.4840_4845del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-263_-258del ENSP00000482169.1:n.-263_-258del
NM_006158.4:c.-263_-258del , LRG_259t1:c.-263_-258del NP_006149.2:n.-263_-258del
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