Canonical Allele Identifier: CA2686596922
Gene: NEFL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956574del , CM000670.2:g.24956574del GRCh38
NC_000008.10:g.24814088del , CM000670.1:g.24814088del GRCh37
NC_000008.9:g.24870005del NCBI36
NG_008492.1:g.5044del , LRG_259:g.5044del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.-59del MANE Select ENSP00000482169.2:n.-59del
ENST00000610854.1:c.-59del ENSP00000482169.1:n.-59del
ENST00000615973.1:n.148del
ENST00000619417.1:c.-59del ENSP00000483690.1:n.-59del
NM_006158.4:c.-59del , LRG_259t1:c.-59del NP_006149.2:n.-59del
NM_006158.5:c.-59del MANE Select NP_006149.2:n.-59del