Canonical Allele Identifier: CA2810126904
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941958_63941959insCCCATTTCTAAAAACTATTCTTAA , CM000679.2:g.63941958_63941959insCCCATTTCTAAAAACTATTCTTAA GRCh38
NC_000017.10:g.62019318_62019319insCCCATTTCTAAAAACTATTCTTAA , CM000679.1:g.62019318_62019319insCCCATTTCTAAAAACTATTCTTAA GRCh37
NC_000017.9:g.59373050_59373051insCCCATTTCTAAAAACTATTCTTAA NCBI36
NG_011699.1:g.35960_35961insTTAAGAATAGTTTTTAGAAATGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4323_4324insTTAAGAATAGTTTTTAGAAATGGG MANE Select ENSP00000396320.1:p.Phe1441_Val1442insLeuArgIleValPheArgAsnGl...
ENST00000578147.5:c.4323_4324insTTAAGAATAGTTTTTAGAAATGGG ENSP00000463963.1:p.Phe1441_Val1442insLeuArgIleValPheArgAsnGl...
NM_000334.4:c.4323_4324insTTAAGAATAGTTTTTAGAAATGGG MANE Select NP_000325.4:p.Phe1441_Val1442insLeuArgIleValPheArgAsnGly
XM_005257566.3:c.4323_4324insTTAAGAATAGTTTTTAGAAATGGG XP_005257623.1:p.Phe1441_Val1442insLeuArgIleValPheArgAsnGly
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