Canonical Allele Identifier: CA2036195005
Gene: SCN8A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807290_51807292delinsAAG , CM000674.2:g.51807290_51807292delinsAAG GRCh38
NC_000012.11:g.52201074_52201076delinsAAG , CM000674.1:g.52201074_52201076delinsAAG GRCh37
NC_000012.10:g.50487341_50487343delinsAAG NCBI36
NG_021180.2:g.221055_221057delinsAAG
NG_021180.3:g.222333_222335delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5804_5806delinsAAG MANE Plus Clinical ENSP00000346534.4:p.Lys1935=
ENST00000627620.5:c.5804_5806delinsAAG MANE Select ENSP00000487583.2:p.Lys1935=
ENST00000662684.1:c.5804_5806delinsAAG ENSP00000499636.1:p.Lys1935=
ENST00000668547.1:c.5681_5683delinsAAG ENSP00000499691.1:p.Lys1894=
ENST00000354534.10:c.5804_5806delinsAAG ENSP00000346534.4:p.Lys1935=
ENST00000355133.7:c.5681_5683delinsAAG ENSP00000347255.4:p.Lys1894=
ENST00000545061.5:c.5681_5683delinsAAG ENSP00000440360.1:p.Lys1894=
ENST00000599343.5:c.5837_5839delinsAAG ENSP00000476447.3:p.Lys1946=
ENST00000627620.2:c.5804_5806delinsAAG ENSP00000487583.1:p.Lys1935=
NM_001177984.2:c.5681_5683delinsAAG NP_001171455.1:p.Lys1894=
NM_014191.3:c.5804_5806delinsAAG NP_055006.1:p.Lys1935=
XM_006719556.2:c.5804_5806delinsAAG XP_006719619.1:p.Lys1935=
XM_011538650.1:c.5804_5806delinsAAG XP_011536952.1:p.Lys1935=
XM_011538651.1:c.5804_5806delinsAAG XP_011536953.1:p.Lys1935=
NM_001330260.1:c.5804_5806delinsAAG NP_001317189.1:p.Lys1935=
XM_006719556.4:c.5804_5806delinsAAG XP_006719619.1:p.Lys1935=
XM_011538651.3:c.5804_5806delinsAAG XP_011536953.1:p.Lys1935=
XM_017019794.2:c.5804_5806delinsAAG XP_016875283.1:p.Lys1935=
XM_017019795.2:c.5681_5683delinsAAG XP_016875284.1:p.Lys1894=
NM_001330260.2:c.5804_5806delinsAAG MANE Select NP_001317189.1:p.Lys1935=
NM_001369788.1:c.5681_5683delinsAAG NP_001356717.1:p.Lys1894=
NM_014191.4:c.5804_5806delinsAAG MANE Plus Clinical NP_055006.1:p.Lys1935=
NM_001177984.3:c.5681_5683delinsAAG NP_001171455.1:p.Lys1894=
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