Canonical Allele Identifier: CA605238632
Gene: SCN8A HGNC NCBI

Linked Data

dbSNP Id: rs1565934781
gnomAD v2: 12-52201160-GGAA-G
gnomAD v3: 12-51807376-GGAA-G
gnomAD v4: 12-51807376-GGAA-G
MyVariant Identifiers: chr12:g.52201161_52201163del (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807381_51807383del , CM000674.2:g.51807381_51807383del GRCh38
NC_000012.11:g.52201165_52201167del , CM000674.1:g.52201165_52201167del GRCh37
NC_000012.10:g.50487432_50487434del NCBI36
NG_021180.2:g.221146_221148del
NG_021180.3:g.222424_222426del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5895_5897del MANE Plus Clinical ENSP00000346534.4:p.Arg1966del
ENST00000627620.5:c.5895_5897del MANE Select ENSP00000487583.2:p.Arg1966del
ENST00000662684.1:c.5895_5897del ENSP00000499636.1:p.Arg1966del
ENST00000668547.1:c.5772_5774del ENSP00000499691.1:p.Arg1925del
ENST00000354534.10:c.5895_5897del ENSP00000346534.4:p.Arg1966del
ENST00000355133.7:c.5772_5774del ENSP00000347255.4:p.Arg1925del
ENST00000545061.5:c.5772_5774del ENSP00000440360.1:p.Arg1925del
ENST00000599343.5:c.5928_5930del ENSP00000476447.3:p.Arg1977del
ENST00000627620.2:c.5895_5897del ENSP00000487583.1:p.Arg1966del
NM_001177984.2:c.5772_5774del NP_001171455.1:p.Arg1925del
NM_014191.3:c.5895_5897del NP_055006.1:p.Arg1966del
XM_006719556.2:c.5895_5897del XP_006719619.1:p.Arg1966del
XM_011538650.1:c.5895_5897del XP_011536952.1:p.Arg1966del
XM_011538651.1:c.5895_5897del XP_011536953.1:p.Arg1966del
NM_001330260.1:c.5895_5897del NP_001317189.1:p.Arg1966del
XM_006719556.4:c.5895_5897del XP_006719619.1:p.Arg1966del
XM_011538651.3:c.5895_5897del XP_011536953.1:p.Arg1966del
XM_017019794.2:c.5895_5897del XP_016875283.1:p.Arg1966del
XM_017019795.2:c.5772_5774del XP_016875284.1:p.Arg1925del
NM_001330260.2:c.5895_5897del MANE Select NP_001317189.1:p.Arg1966del
NM_001369788.1:c.5772_5774del NP_001356717.1:p.Arg1925del
NM_014191.4:c.5895_5897del MANE Plus Clinical NP_055006.1:p.Arg1966del
NM_001177984.3:c.5772_5774del NP_001171455.1:p.Arg1925del
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