Canonical Allele Identifier: CA10174307

Gene: NEFH

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29489595_29489612dup , CM000684.2:g.29489595_29489612dup	GRCh38
NC_000022.10:g.29885584_29885601dup , CM000684.1:g.29885584_29885601dup	GRCh37
NC_000022.9:g.28215584_28215601dup	NCBI36
NG_008404.1:g.14404_14421dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310624.7:c.1955_1972dup MANE Select	ENSP00000311997.6:p.Lys657_Glu658insAlaLysSerProGluLys
ENST00000310624.6:c.1955_1972dup	ENSP00000311997.6:p.Lys657_Glu658insAlaLysSerProGluLys
NM_021076.3:c.1955_1972dup	NP_066554.2:p.Lys657_Glu658insAlaLysSerProGluLys
XM_011530200.1:c.1667_1684dup	XP_011528502.1:p.Lys561_Glu562insAlaLysSerProGluLys
XM_011530200.2:c.1667_1684dup	XP_011528502.1:p.Lys561_Glu562insAlaLysSerProGluLys
NM_021076.4:c.1955_1972dup MANE Select	NP_066554.2:p.Lys657_Glu658insAlaLysSerProGluLys