Canonical Allele Identifier: CA947681525

Gene: SCN8A

Linked Data

• gnomAD v3: 12-51765668-TAGC-T
• gnomAD v4: 12-51765668-TAGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.51765669_51765671del , CM000674.2:g.51765669_51765671del	GRCh38
NC_000012.11:g.52159453_52159455del , CM000674.1:g.52159453_52159455del	GRCh37
NC_000012.10:g.50445720_50445722del	NCBI36
NG_021180.2:g.179434_179436del
NG_021180.3:g.180712_180714del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354534.11:c.2545-2_2545del
ENST00000548086.3:c.392-2_392del
ENST00000627620.5:c.2545-2_2545del
ENST00000636945.2:c.549-2_549del
ENST00000662684.1:c.2545-2_2545del
ENST00000668547.1:c.2545-2_2545del
ENST00000354534.10:c.2545-2_2545del
ENST00000355133.7:c.2545-2_2545del
ENST00000545061.5:c.2545-2_2545del
ENST00000550891.4:n.2673-2_2673del
ENST00000599343.5:c.2578-2_2578del
ENST00000627620.2:c.2545-2_2545del
NM_001177984.2:c.2545-2_2545del
NM_014191.3:c.2545-2_2545del
XM_006719556.2:c.2545-2_2545del
XM_011538650.1:c.2545-2_2545del
XM_011538651.1:c.2545-2_2545del
NM_001330260.1:c.2545-2_2545del
XM_006719556.4:c.2545-2_2545del
XM_011538651.3:c.2545-2_2545del
XM_017019794.2:c.2545-2_2545del
XM_017019795.2:c.2545-2_2545del
XM_017019796.1:c.2545-2_2545del
NM_001330260.2:c.2545-2_2545del
NM_001369788.1:c.2545-2_2545del
NM_014191.4:c.2545-2_2545del
NM_001177984.3:c.2545-2_2545del