Canonical Allele Identifier: CA2686596933
Gene: NEFL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956713_24956715dup , CM000670.2:g.24956713_24956715dup GRCh38
NC_000008.10:g.24814227_24814229dup , CM000670.1:g.24814227_24814229dup GRCh37
NC_000008.9:g.24870144_24870146dup NCBI36
NG_008492.1:g.4908_4910dup , LRG_259:g.4908_4910dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.1:c.-195_-193dup ENSP00000482169.1:n.-195_-193dup
ENST00000615973.1:n.12_14dup
NM_006158.4:c.-195_-193dup , LRG_259t1:c.-195_-193dup NP_006149.2:n.-195_-193dup