Canonical Allele Identifier: CA2810128080

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAAACCG , CM000679.2:g.63971841_63971842insGTCGCCGTATCATTAAAAAAAAAACCG	GRCh38
NC_000017.10:g.62049201_62049202insGTCGCCGTATCATTAAAAAAAAAACCG , CM000679.1:g.62049201_62049202insGTCGCCGTATCATTAAAAAAAAAACCG	GRCh37
NC_000017.9:g.59402933_59402934insGTCGCCGTATCATTAAAAAAAAAACCG	NCBI36
NG_011699.1:g.6078_6079insGGTTTTTTTTTTAATGATACGGCGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.492_493insGGTTTTTTTTTTAATGATACGGCGACC MANE Select	ENSP00000396320.1:p.Phe164_Thr165insGlyPhePhePheAsnAspThrAlaT...
ENST00000578147.5:c.492_493insGGTTTTTTTTTTAATGATACGGCGACC	ENSP00000463963.1:p.Phe164_Thr165insGlyPhePhePheAsnAspThrAlaT...
NM_000334.4:c.492_493insGGTTTTTTTTTTAATGATACGGCGACC MANE Select	NP_000325.4:p.Phe164_Thr165insGlyPhePhePheAsnAspThrAlaThr
XM_005257566.3:c.492_493insGGTTTTTTTTTTAATGATACGGCGACC	XP_005257623.1:p.Phe164_Thr165insGlyPhePhePheAsnAspThrAlaThr