Canonical Allele Identifier: CA2686596915
Gene: NEFL HGNC NCBI

Linked Data

gnomAD v4: 8-24956384-CGA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.24956386_24956387del , CM000670.2:g.24956386_24956387del GRCh38
NC_000008.10:g.24813900_24813901del , CM000670.1:g.24813900_24813901del GRCh37
NC_000008.9:g.24869817_24869818del NCBI36
NG_008492.1:g.5232_5233del , LRG_259:g.5232_5233del

Transcript Alleles

HGVS Amino-acid Change
ENST00000610854.2:c.130_131del MANE Select ENSP00000482169.2:p.Ser44GlyfsTer?
ENST00000610854.1:c.130_131del ENSP00000482169.1:p.Ser44GlyfsTer?
ENST00000615973.1:n.336_337del
ENST00000619417.1:c.130_131del ENSP00000483690.1:p.Ser44GlyfsTer?
NM_006158.4:c.130_131del , LRG_259t1:c.130_131del NP_006149.2:p.Ser44GlyfsTer?
NM_006158.5:c.130_131del MANE Select NP_006149.2:p.Ser44GlyfsTer?
Search 100 bp 5'
Search 100 bp 3'