Canonical Allele Identifier: CA4681568
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs763950990
ExAC: 8:24814038 CCGGTGGCTCCCCGGCCCGCGGCGG / C
gnomAD v2: 8-24814038-CCGGTGGCTCCCCGGCCCGCGGCGG-C
gnomAD v4: 8-24956524-CCGGTGGCTCCCCGGCCCGCGGCGG-C
MyVariant Identifiers: chr8:g.24814039_24814062del (hg19) chr8:g.24956525_24956548del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956531_24956554del , CM000670.2:g.24956531_24956554del GRCh38
NC_000008.10:g.24814045_24814068del , CM000670.1:g.24814045_24814068del GRCh37
NC_000008.9:g.24869962_24869985del NCBI36
NG_008492.1:g.5070_5093del , LRG_259:g.5070_5093del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.-33_-10del MANE Select ENSP00000482169.2:n.-33_-10del
ENST00000610854.1:c.-33_-10del ENSP00000482169.1:n.-33_-10del
ENST00000615973.1:n.174_197del
ENST00000619417.1:c.-33_-10del ENSP00000483690.1:n.-33_-10del
NM_006158.4:c.-33_-10del , LRG_259t1:c.-33_-10del NP_006149.2:n.-33_-10del
NM_006158.5:c.-33_-10del MANE Select NP_006149.2:n.-33_-10del
Search 100 bp 5'
Search 100 bp 3'