Canonical Allele Identifier: CA2716801986
Gene: NEFL HGNC NCBI

Linked Data

dbSNP Id: rs2117250257
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24952456_24952457insTT , CM000670.2:g.24952456_24952457insTT GRCh38
NC_000008.10:g.24809969_24809970insTT , CM000670.1:g.24809969_24809970insTT GRCh37
NC_000008.9:g.24865886_24865887insTT NCBI36
NG_008492.1:g.9161_9162insAA , LRG_259:g.9161_9162insAA

Transcript Alleles

HGVS Amino-acid change
ENST00000610854.2:c.*353_*354insAA MANE Select ENSP00000482169.2:n.*353_*354insAA
ENST00000610854.1:c.*353_*354insAA ENSP00000482169.1:n.*353_*354insAA
ENST00000619417.1:c.*850_*851insAA ENSP00000483690.1:n.*850_*851insAA
NM_006158.4:c.*353_*354insAA , LRG_259t1:c.*353_*354insAA NP_006149.2:n.*353_*354insAA
NM_006158.5:c.*353_*354insAA MANE Select NP_006149.2:n.*353_*354insAA
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