Canonical Allele Identifier: CA3043563636

Gene: NEFH

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.29489604_29489605insTGAGAAGGCCAAATCCCC , CM000684.2:g.29489604_29489605insTGAGAAGGCCAAATCCCC	GRCh38
NC_000022.10:g.29885593_29885594insTGAGAAGGCCAAATCCCC , CM000684.1:g.29885593_29885594insTGAGAAGGCCAAATCCCC	GRCh37
NC_000022.9:g.28215593_28215594insTGAGAAGGCCAAATCCCC	NCBI36
NG_008404.1:g.14413_14414insTGAGAAGGCCAAATCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000310624.7:c.1964_1965insTGAGAAGGCCAAATCCCC MANE Select	ENSP00000311997.6:p.Pro655_Glu656insGluLysAlaLysSerPro
ENST00000310624.6:c.1964_1965insTGAGAAGGCCAAATCCCC	ENSP00000311997.6:p.Pro655_Glu656insGluLysAlaLysSerPro
NM_021076.3:c.1964_1965insTGAGAAGGCCAAATCCCC	NP_066554.2:p.Pro655_Glu656insGluLysAlaLysSerPro
XM_011530200.1:c.1676_1677insTGAGAAGGCCAAATCCCC	XP_011528502.1:p.Pro559_Glu560insGluLysAlaLysSerPro
XM_011530200.2:c.1676_1677insTGAGAAGGCCAAATCCCC	XP_011528502.1:p.Pro559_Glu560insGluLysAlaLysSerPro
NM_021076.4:c.1964_1965insTGAGAAGGCCAAATCCCC MANE Select	NP_066554.2:p.Pro655_Glu656insGluLysAlaLysSerPro