Canonical Allele Identifier: CA2810127874
Gene: SCN4A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63941561_63941563dup , CM000679.2:g.63941561_63941563dup GRCh38
NC_000017.10:g.62018921_62018923dup , CM000679.1:g.62018921_62018923dup GRCh37
NC_000017.9:g.59372653_59372655dup NCBI36
NG_011699.1:g.36357_36359dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000435607.3:c.4720_4722dup MANE Select ENSP00000396320.1:p.Gly1574_Ile1575insGly
ENST00000578147.5:c.4720_4722dup ENSP00000463963.1:p.Gly1574_Ile1575insGly
NM_000334.4:c.4720_4722dup MANE Select NP_000325.4:p.Gly1574_Ile1575insGly
XM_005257566.3:c.4720_4722dup XP_005257623.1:p.Gly1574_Ile1575insGly
Search 100 bp 5'
Search 100 bp 3'