Canonical Allele Identifier: CA2779437078

Gene: NEFL

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.24956481_24956482del , CM000670.2:g.24956481_24956482del	GRCh38
NC_000008.10:g.24813995_24813996del , CM000670.1:g.24813995_24813996del	GRCh37
NC_000008.9:g.24869912_24869913del	NCBI36
NG_008492.1:g.5136_5137del , LRG_259:g.5136_5137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000610854.2:c.34_35del MANE Select	ENSP00000482169.2:p.Thr12LeufsTer?
ENST00000610854.1:c.34_35del	ENSP00000482169.1:p.Thr12LeufsTer?
ENST00000615973.1:n.240_241del
ENST00000619417.1:c.34_35del	ENSP00000483690.1:p.Thr12LeufsTer?
NM_006158.4:c.34_35del , LRG_259t1:c.34_35del	NP_006149.2:p.Thr12LeufsTer?
NM_006158.5:c.34_35del MANE Select	NP_006149.2:p.Thr12LeufsTer?