Canonical Allele Identifier: CA2618842382
Gene: SCN8A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.51807303_51807305dup , CM000674.2:g.51807303_51807305dup GRCh38
NC_000012.11:g.52201087_52201089dup , CM000674.1:g.52201087_52201089dup GRCh37
NC_000012.10:g.50487354_50487356dup NCBI36
NG_021180.2:g.221068_221070dup
NG_021180.3:g.222346_222348dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354534.11:c.5817_5819dup MANE Plus Clinical ENSP00000346534.4:p.Ser1940_Thr1941insSer
ENST00000627620.5:c.5817_5819dup MANE Select ENSP00000487583.2:p.Ser1940_Thr1941insSer
ENST00000662684.1:c.5817_5819dup ENSP00000499636.1:p.Ser1940_Thr1941insSer
ENST00000668547.1:c.5694_5696dup ENSP00000499691.1:p.Ser1899_Thr1900insSer
ENST00000354534.10:c.5817_5819dup ENSP00000346534.4:p.Ser1940_Thr1941insSer
ENST00000355133.7:c.5694_5696dup ENSP00000347255.4:p.Ser1899_Thr1900insSer
ENST00000545061.5:c.5694_5696dup ENSP00000440360.1:p.Ser1899_Thr1900insSer
ENST00000599343.5:c.5850_5852dup ENSP00000476447.3:p.Ser1951_Thr1952insSer
ENST00000627620.2:c.5817_5819dup ENSP00000487583.1:p.Ser1940_Thr1941insSer
NM_001177984.2:c.5694_5696dup NP_001171455.1:p.Ser1899_Thr1900insSer
NM_014191.3:c.5817_5819dup NP_055006.1:p.Ser1940_Thr1941insSer
XM_006719556.2:c.5817_5819dup XP_006719619.1:p.Ser1940_Thr1941insSer
XM_011538650.1:c.5817_5819dup XP_011536952.1:p.Ser1940_Thr1941insSer
XM_011538651.1:c.5817_5819dup XP_011536953.1:p.Ser1940_Thr1941insSer
NM_001330260.1:c.5817_5819dup NP_001317189.1:p.Ser1940_Thr1941insSer
XM_006719556.4:c.5817_5819dup XP_006719619.1:p.Ser1940_Thr1941insSer
XM_011538651.3:c.5817_5819dup XP_011536953.1:p.Ser1940_Thr1941insSer
XM_017019794.2:c.5817_5819dup XP_016875283.1:p.Ser1940_Thr1941insSer
XM_017019795.2:c.5694_5696dup XP_016875284.1:p.Ser1899_Thr1900insSer
NM_001330260.2:c.5817_5819dup MANE Select NP_001317189.1:p.Ser1940_Thr1941insSer
NM_001369788.1:c.5694_5696dup NP_001356717.1:p.Ser1899_Thr1900insSer
NM_014191.4:c.5817_5819dup MANE Plus Clinical NP_055006.1:p.Ser1940_Thr1941insSer
NM_001177984.3:c.5694_5696dup NP_001171455.1:p.Ser1899_Thr1900insSer