Canonical Allele Identifier: CA2573142647
Gene: NEFL HGNC NCBI

Linked Data

ClinVar Variation Id: 1482235
ClinVar RCV Id: RCV001995536
dbSNP Id: rs2117255966
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956452_24956454delinsAAA , CM000670.2:g.24956452_24956454delinsAAA GRCh38
NC_000008.10:g.24813966_24813968delinsAAA , CM000670.1:g.24813966_24813968delinsAAA GRCh37
NC_000008.9:g.24869883_24869885delinsAAA NCBI36
NG_008492.1:g.5164_5166delinsTTT , LRG_259:g.5164_5166delinsTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.62_64delinsTTT MANE Select ENSP00000482169.2:p.Thr21_Pro22delinsIleSer
ENST00000610854.1:c.62_64delinsTTT ENSP00000482169.1:p.Thr21_Pro22delinsIleSer
ENST00000615973.1:n.268_270delinsTTT
ENST00000619417.1:c.62_64delinsTTT ENSP00000483690.1:p.Thr21_Pro22delinsIleSer
NM_006158.4:c.62_64delinsTTT , LRG_259t1:c.62_64delinsTTT NP_006149.2:p.Thr21_Pro22delinsIleSer
NM_006158.5:c.62_64delinsTTT MANE Select NP_006149.2:p.Thr21_Pro22delinsIleSer
Search 100 bp 5'
Search 100 bp 3'