Canonical Allele Identifier: CA2639312279
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63945568-CAGA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63945572_63945574del , CM000679.2:g.63945572_63945574del GRCh38
NC_000017.10:g.62022932_62022934del , CM000679.1:g.62022932_62022934del GRCh37
NC_000017.9:g.59376664_59376666del NCBI36
NG_011699.1:g.32348_32350del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.3509_3511del MANE Select ENSP00000396320.1:p.Phe1170del
ENST00000578147.5:c.3509_3511del ENSP00000463963.1:p.Phe1170del
NM_000334.4:c.3509_3511del MANE Select NP_000325.4:p.Phe1170del
XM_005257566.3:c.3509_3511del XP_005257623.1:p.Phe1170del
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