Canonical Allele Identifier: CA2618841168

Gene: SCN8A

Linked Data

• gnomAD v4: 12-51806244-C-CTCAAAGAGAAAGGGTGTCTCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51806244_51806245insTCAAAGAGAAAGGGTGTCTCCA , CM000674.2:g.51806244_51806245insTCAAAGAGAAAGGGTGTCTCCA	GRCh38
NC_000012.11:g.52200028_52200029insTCAAAGAGAAAGGGTGTCTCCA , CM000674.1:g.52200028_52200029insTCAAAGAGAAAGGGTGTCTCCA	GRCh37
NC_000012.10:g.50486295_50486296insTCAAAGAGAAAGGGTGTCTCCA	NCBI36
NG_021180.2:g.220009_220010insTCAAAGAGAAAGGGTGTCTCCA
NG_021180.3:g.221287_221288insTCAAAGAGAAAGGGTGTCTCCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA MANE Plus Clinical	ENSP00000346534.4:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
ENST00000627620.5:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA MANE Select	ENSP00000487583.2:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
ENST00000636945.2:c.2860-38_2860-37insTCAAAGAGAAAGGGTGTCTCCA
ENST00000662684.1:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA	ENSP00000499636.1:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
ENST00000668547.1:c.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA	ENSP00000499691.1:n.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA
ENST00000354534.10:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA	ENSP00000346534.4:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
ENST00000355133.7:c.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA	ENSP00000347255.4:n.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA
ENST00000545061.5:c.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA	ENSP00000440360.1:n.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA
ENST00000599343.5:c.4829-38_4829-37insTCAAAGAGAAAGGGTGTCTCCA	ENSP00000476447.3:n.4829-38_4829-37insTCAAAGAGAAAGGGTGTCTCCA
ENST00000627620.2:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA	ENSP00000487583.1:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
NM_001177984.2:c.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA	NP_001171455.1:n.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA
NM_014191.3:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA	NP_055006.1:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
XM_006719556.2:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA	XP_006719619.1:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
XM_011538650.1:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA	XP_011536952.1:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
XM_011538651.1:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA	XP_011536953.1:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
NM_001330260.1:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA	NP_001317189.1:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
XM_006719556.4:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA	XP_006719619.1:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
XM_011538651.3:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA	XP_011536953.1:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
XM_017019794.2:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA	XP_016875283.1:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
XM_017019795.2:c.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA	XP_016875284.1:n.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA
NM_001330260.2:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA MANE Select	NP_001317189.1:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
NM_001369788.1:c.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA	NP_001356717.1:n.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA
NM_014191.4:c.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA MANE Plus Clinical	NP_055006.1:n.4796-38_4796-37insTCAAAGAGAAAGGGTGTCTCCA
NM_001177984.3:c.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA	NP_001171455.1:n.4673-38_4673-37insTCAAAGAGAAAGGGTGTCTCCA