Canonical Allele Identifier: CA2512898859

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51806388del , CM000674.2:g.51806388del	GRCh38
NC_000012.11:g.52200172del , CM000674.1:g.52200172del	GRCh37
NC_000012.10:g.50486439del	NCBI36
NG_021180.2:g.220153del
NG_021180.3:g.221431del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354534.11:c.4902del MANE Plus Clinical	ENSP00000346534.4:p.Ile1637PhefsTer8
ENST00000627620.5:c.4902del MANE Select	ENSP00000487583.2:p.Ile1637PhefsTer8
ENST00000636945.2:c.2966del
ENST00000662684.1:c.4902del	ENSP00000499636.1:p.Ile1637PhefsTer8
ENST00000668547.1:c.4779del	ENSP00000499691.1:p.Ile1596PhefsTer8
ENST00000354534.10:c.4902del	ENSP00000346534.4:p.Ile1637PhefsTer8
ENST00000355133.7:c.4779del	ENSP00000347255.4:p.Ile1596PhefsTer8
ENST00000545061.5:c.4779del	ENSP00000440360.1:p.Ile1596PhefsTer8
ENST00000599343.5:c.4935del	ENSP00000476447.3:p.Ile1648PhefsTer8
ENST00000627620.2:c.4902del	ENSP00000487583.1:p.Ile1637PhefsTer8
NM_001177984.2:c.4779del	NP_001171455.1:p.Ile1596PhefsTer8
NM_014191.3:c.4902del	NP_055006.1:p.Ile1637PhefsTer8
XM_006719556.2:c.4902del	XP_006719619.1:p.Ile1637PhefsTer8
XM_011538650.1:c.4902del	XP_011536952.1:p.Ile1637PhefsTer8
XM_011538651.1:c.4902del	XP_011536953.1:p.Ile1637PhefsTer8
NM_001330260.1:c.4902del	NP_001317189.1:p.Ile1637PhefsTer8
XM_006719556.4:c.4902del	XP_006719619.1:p.Ile1637PhefsTer8
XM_011538651.3:c.4902del	XP_011536953.1:p.Ile1637PhefsTer8
XM_017019794.2:c.4902del	XP_016875283.1:p.Ile1637PhefsTer8
XM_017019795.2:c.4779del	XP_016875284.1:p.Ile1596PhefsTer8
NM_001330260.2:c.4902del MANE Select	NP_001317189.1:p.Ile1637PhefsTer8
NM_001369788.1:c.4779del	NP_001356717.1:p.Ile1596PhefsTer8
NM_014191.4:c.4902del MANE Plus Clinical	NP_055006.1:p.Ile1637PhefsTer8
NM_001177984.3:c.4779del	NP_001171455.1:p.Ile1596PhefsTer8