Canonical Allele Identifier: CA174062491
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs967573420
gnomAD v3: 8-24956755-CGAGCTACGGCCCGAG-C
gnomAD v4: 8-24956755-CGAGCTACGGCCCGAG-C
MyVariant Identifiers: chr8:g.24814270_24814284del (hg19) chr8:g.24956756_24956770del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956761_24956775del , CM000670.2:g.24956761_24956775del GRCh38
NC_000008.10:g.24814275_24814289del , CM000670.1:g.24814275_24814289del GRCh37
NC_000008.9:g.24870192_24870206del NCBI36
NG_008492.1:g.4848_4862del , LRG_259:g.4848_4862del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-255_-241del ENSP00000482169.1:n.-255_-241del
NM_006158.4:c.-255_-241del , LRG_259t1:c.-255_-241del NP_006149.2:n.-255_-241del
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