Canonical Allele Identifier: CA2618841927

Gene: SCN8A

Linked Data

• gnomAD v4: 12-51807003-G-GTA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51807003_51807004insTA , CM000674.2:g.51807003_51807004insTA	GRCh38
NC_000012.11:g.52200787_52200788insTA , CM000674.1:g.52200787_52200788insTA	GRCh37
NC_000012.10:g.50487054_50487055insTA	NCBI36
NG_021180.2:g.220768_220769insTA
NG_021180.3:g.222046_222047insTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.5517_5518insTA MANE Plus Clinical	ENSP00000346534.4:p.Asp1840Ter
ENST00000627620.5:c.5517_5518insTA MANE Select	ENSP00000487583.2:p.Asp1840Ter
ENST00000662684.1:c.5517_5518insTA	ENSP00000499636.1:p.Asp1840Ter
ENST00000668547.1:c.5394_5395insTA	ENSP00000499691.1:p.Asp1799Ter
ENST00000354534.10:c.5517_5518insTA	ENSP00000346534.4:p.Asp1840Ter
ENST00000355133.7:c.5394_5395insTA	ENSP00000347255.4:p.Asp1799Ter
ENST00000545061.5:c.5394_5395insTA	ENSP00000440360.1:p.Asp1799Ter
ENST00000599343.5:c.5550_5551insTA	ENSP00000476447.3:p.Asp1851Ter
ENST00000627620.2:c.5517_5518insTA	ENSP00000487583.1:p.Asp1840Ter
NM_001177984.2:c.5394_5395insTA	NP_001171455.1:p.Asp1799Ter
NM_014191.3:c.5517_5518insTA	NP_055006.1:p.Asp1840Ter
XM_006719556.2:c.5517_5518insTA	XP_006719619.1:p.Asp1840Ter
XM_011538650.1:c.5517_5518insTA	XP_011536952.1:p.Asp1840Ter
XM_011538651.1:c.5517_5518insTA	XP_011536953.1:p.Asp1840Ter
NM_001330260.1:c.5517_5518insTA	NP_001317189.1:p.Asp1840Ter
XM_006719556.4:c.5517_5518insTA	XP_006719619.1:p.Asp1840Ter
XM_011538651.3:c.5517_5518insTA	XP_011536953.1:p.Asp1840Ter
XM_017019794.2:c.5517_5518insTA	XP_016875283.1:p.Asp1840Ter
XM_017019795.2:c.5394_5395insTA	XP_016875284.1:p.Asp1799Ter
NM_001330260.2:c.5517_5518insTA MANE Select	NP_001317189.1:p.Asp1840Ter
NM_001369788.1:c.5394_5395insTA	NP_001356717.1:p.Asp1799Ter
NM_014191.4:c.5517_5518insTA MANE Plus Clinical	NP_055006.1:p.Asp1840Ter
NM_001177984.3:c.5394_5395insTA	NP_001171455.1:p.Asp1799Ter