Canonical Allele Identifier: CA1358718305
Gene: SCN11A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38894949_38894952delinsTGAA , CM000665.2:g.38894949_38894952delinsTGAA GRCh38
NC_000003.11:g.38936440_38936443delinsTGAA , CM000665.1:g.38936440_38936443delinsTGAA GRCh37
NC_000003.10:g.38911444_38911447delinsTGAA NCBI36
NG_033859.1:g.60610_60613delinsTTCA
NG_033859.2:g.162035_162038delinsTTCA

Transcript Alleles

HGVS Amino-acid change
ENST00000302328.9:c.2416_2419delinsTTCA MANE Select ENSP00000307599.3:p.Phe806=
ENST00000668754.1:c.2416_2419delinsTTCA ENSP00000499569.1:p.Phe806=
ENST00000675223.1:c.2416_2419delinsTTCA ENSP00000502481.1:p.Phe806=
ENST00000675672.1:c.2416_2419delinsTTCA ENSP00000502446.1:p.Phe806=
ENST00000675892.1:c.2236_2239delinsTTCA ENSP00000502318.1:p.Phe746=
ENST00000676045.1:c.2460_2463delinsTTCA ENSP00000501685.1:n.2460_2463delinsTTCA
ENST00000676176.1:c.2035_2038delinsTTCA ENSP00000501891.1:p.Phe679=
ENST00000302328.7:c.2416_2419delinsTTCA ENSP00000307599.3:p.Phe806=
ENST00000444237.2:c.2416_2419delinsTTCA ENSP00000408028.2:p.Phe806=
ENST00000456224.7:c.2416_2419delinsTTCA ENSP00000416757.3:p.Phe806=
NM_001287223.1:c.2416_2419delinsTTCA NP_001274152.1:p.Phe806=
NM_014139.2:c.2416_2419delinsTTCA NP_054858.2:p.Phe806=
XM_011533320.1:c.2416_2419delinsTTCA XP_011531622.1:p.Phe806=
XM_011533321.1:c.1753_1756delinsTTCA XP_011531623.1:p.Phe585=
XM_011533322.1:c.964_967delinsTTCA XP_011531624.1:p.Phe322=
NM_001349253.1:c.2416_2419delinsTTCA NP_001336182.1:p.Phe806=
XM_011533321.2:c.1753_1756delinsTTCA XP_011531623.1:p.Phe585=
XM_017005647.1:c.2791_2794delinsTTCA XP_016861136.1:p.Phe931=
XM_017005648.1:c.2218_2221delinsTTCA XP_016861137.1:p.Phe740=
XM_017005650.1:c.2416_2419delinsTTCA XP_016861139.1:p.Phe806=
XM_017005651.1:c.2143_2146delinsTTCA XP_016861140.1:p.Phe715=
XM_017005652.1:c.2416_2419delinsTTCA XP_016861141.1:p.Phe806=
XM_017005653.1:c.820_823delinsTTCA XP_016861142.1:p.Phe274=
NM_001349253.2:c.2416_2419delinsTTCA MANE Select NP_001336182.1:p.Phe806=
NM_014139.3:c.2416_2419delinsTTCA NP_054858.2:p.Phe806=