Canonical Allele Identifier: CA2795979106

Gene: SCN8A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51745899_51745904del , CM000674.2:g.51745899_51745904del	GRCh38
NC_000012.11:g.52139683_52139688del , CM000674.1:g.52139683_52139688del	GRCh37
NC_000012.10:g.50425950_50425955del	NCBI36
NG_021180.2:g.159664_159669del
NG_021180.3:g.160942_160947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.1999-4_2000del
ENST00000627620.5:c.1999-4_2000del
ENST00000662684.1:c.1999-4_2000del
ENST00000668547.1:c.1999-4_2000del
ENST00000354534.10:c.1999-4_2000del
ENST00000355133.7:c.1999-4_2000del
ENST00000545061.5:c.1999-4_2000del
ENST00000550891.4:n.2127-4_2128del
ENST00000551216.2:c.1582-4_1583del
ENST00000599343.5:c.2032-4_2033del
ENST00000627620.2:c.1999-4_2000del
NM_001177984.2:c.1999-4_2000del
NM_014191.3:c.1999-4_2000del
XM_006719556.2:c.1999-4_2000del
XM_011538650.1:c.1999-4_2000del
XM_011538651.1:c.1999-4_2000del
NM_001330260.1:c.1999-4_2000del
XM_006719556.4:c.1999-4_2000del
XM_011538651.3:c.1999-4_2000del
XM_017019794.2:c.1999-4_2000del
XM_017019795.2:c.1999-4_2000del
XM_017019796.1:c.1999-4_2000del
NM_001330260.2:c.1999-4_2000del
NM_001369788.1:c.1999-4_2000del
NM_014191.4:c.1999-4_2000del
NM_001177984.3:c.1999-4_2000del