Canonical Allele Identifier: CA2270162669
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63944718_63944719delinsGA , CM000679.2:g.63944718_63944719delinsGA GRCh38
NC_000017.10:g.62022078_62022079delinsGA , CM000679.1:g.62022078_62022079delinsGA GRCh37
NC_000017.9:g.59375810_59375811delinsGA NCBI36
NG_011699.1:g.33200_33201delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3866_3867delinsTC MANE Select ENSP00000396320.1:p.Leu1289=
ENST00000578147.5:c.3866_3867delinsTC ENSP00000463963.1:p.Leu1289=
NM_000334.4:c.3866_3867delinsTC MANE Select NP_000325.4:p.Leu1289=
XM_005257566.3:c.3866_3867delinsTC XP_005257623.1:p.Leu1289=
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