Canonical Allele Identifier: CA2639323950
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63941546-CAGA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941552_63941554del , CM000679.2:g.63941552_63941554del GRCh38
NC_000017.10:g.62018912_62018914del , CM000679.1:g.62018912_62018914del GRCh37
NC_000017.9:g.59372644_59372646del NCBI36
NG_011699.1:g.36370_36372del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4733_4735del MANE Select ENSP00000396320.1:p.Phe1578del
ENST00000578147.5:c.4733_4735del ENSP00000463963.1:p.Phe1578del
NM_000334.4:c.4733_4735del MANE Select NP_000325.4:p.Phe1578del
XM_005257566.3:c.4733_4735del XP_005257623.1:p.Phe1578del
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