Canonical Allele Identifier: CA2716802008
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs2117255999
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956462del , CM000670.2:g.24956462del GRCh38
NC_000008.10:g.24813976del , CM000670.1:g.24813976del GRCh37
NC_000008.9:g.24869893del NCBI36
NG_008492.1:g.5156del , LRG_259:g.5156del

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.54del MANE Select ENSP00000482169.2:p.Tyr18Ter
ENST00000610854.1:c.54del ENSP00000482169.1:p.Tyr18Ter
ENST00000615973.1:n.260del
ENST00000619417.1:c.54del ENSP00000483690.1:p.Tyr18Ter
NM_006158.4:c.54del , LRG_259t1:c.54del NP_006149.2:p.Tyr18Ter
NM_006158.5:c.54del MANE Select NP_006149.2:p.Tyr18Ter
Search 100 bp 5'
Search 100 bp 3'