Canonical Allele Identifier: CA2639323377
Gene: SCN4A HGNC NCBI

Linked Data

gnomAD v4: 17-63941342-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941345del , CM000679.2:g.63941345del GRCh38
NC_000017.10:g.62018705del , CM000679.1:g.62018705del GRCh37
NC_000017.9:g.59372437del NCBI36
NG_011699.1:g.36576del

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4939del MANE Select ENSP00000396320.1:p.Leu1647CysfsTer5
ENST00000578147.5:c.4939del ENSP00000463963.1:p.Leu1647CysfsTer5
NM_000334.4:c.4939del MANE Select NP_000325.4:p.Leu1647CysfsTer5
XM_005257566.3:c.4939del XP_005257623.1:p.Leu1647CysfsTer5
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