Canonical Allele Identifier: CA2036195427

Gene: SCN8A

Linked Data

• dbSNP Id: rs1938741915

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51807457_51807458del , CM000674.2:g.51807457_51807458del	GRCh38
NC_000012.11:g.52201241_52201242del , CM000674.1:g.52201241_52201242del	GRCh37
NC_000012.10:g.50487508_50487509del	NCBI36
NG_021180.2:g.221222_221223del
NG_021180.3:g.222500_222501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.*28_*29del MANE Plus Clinical	ENSP00000346534.4:n.*28_*29del
ENST00000627620.5:c.*28_*29del MANE Select	ENSP00000487583.2:n.*28_*29del
ENST00000662684.1:c.*28_*29del	ENSP00000499636.1:n.*28_*29del
ENST00000668547.1:c.*28_*29del	ENSP00000499691.1:n.*28_*29del
ENST00000354534.10:c.*28_*29del	ENSP00000346534.4:n.*28_*29del
ENST00000545061.5:c.*28_*29del	ENSP00000440360.1:n.*28_*29del
NM_001177984.2:c.*28_*29del	NP_001171455.1:n.*28_*29del
NM_014191.3:c.*28_*29del	NP_055006.1:n.*28_*29del
XM_006719556.2:c.*28_*29del	XP_006719619.1:n.*28_*29del
XM_011538650.1:c.*28_*29del	XP_011536952.1:n.*28_*29del
XM_011538651.1:c.*28_*29del	XP_011536953.1:n.*28_*29del
NM_001330260.1:c.*28_*29del	NP_001317189.1:n.*28_*29del
XM_006719556.4:c.*28_*29del	XP_006719619.1:n.*28_*29del
XM_011538651.3:c.*28_*29del	XP_011536953.1:n.*28_*29del
XM_017019794.2:c.*28_*29del	XP_016875283.1:n.*28_*29del
XM_017019795.2:c.*28_*29del	XP_016875284.1:n.*28_*29del
NM_001330260.2:c.*28_*29del MANE Select	NP_001317189.1:n.*28_*29del
NM_001369788.1:c.*28_*29del	NP_001356717.1:n.*28_*29del
NM_014191.4:c.*28_*29del MANE Plus Clinical	NP_055006.1:n.*28_*29del
NM_001177984.3:c.*28_*29del	NP_001171455.1:n.*28_*29del