Canonical Allele Identifier: CA2810128079

Gene: SCN4A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63971835_63971836insTCGGTGGTCGCCGTATCATTAAAAAAAAAA , CM000679.2:g.63971835_63971836insTCGGTGGTCGCCGTATCATTAAAAAAAAAA	GRCh38
NC_000017.10:g.62049195_62049196insTCGGTGGTCGCCGTATCATTAAAAAAAAAA , CM000679.1:g.62049195_62049196insTCGGTGGTCGCCGTATCATTAAAAAAAAAA	GRCh37
NC_000017.9:g.59402927_59402928insTCGGTGGTCGCCGTATCATTAAAAAAAAAA	NCBI36
NG_011699.1:g.6083_6084insTTTTTTTTTTAATGATACGGCGACCACCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435607.3:c.497_498insTTTTTTTTTTAATGATACGGCGACCACCGA MANE Select	ENSP00000396320.1:p.Gly166_Ile167insPhePhePheAsnAspThrAlaThrT...
ENST00000578147.5:c.497_498insTTTTTTTTTTAATGATACGGCGACCACCGA	ENSP00000463963.1:p.Gly166_Ile167insPhePhePheAsnAspThrAlaThrT...
NM_000334.4:c.497_498insTTTTTTTTTTAATGATACGGCGACCACCGA MANE Select	NP_000325.4:p.Gly166_Ile167insPhePhePheAsnAspThrAlaThrThrGlu
XM_005257566.3:c.497_498insTTTTTTTTTTAATGATACGGCGACCACCGA	XP_005257623.1:p.Gly166_Ile167insPhePhePheAsnAspThrAlaThrThrG...