Canonical Allele Identifier: CA2586972098

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38620964_38620983del , CM000665.2:g.38620964_38620983del	GRCh38
NC_000003.11:g.38662455_38662474del , CM000665.1:g.38662455_38662474del	GRCh37
NC_000003.10:g.38637459_38637478del	NCBI36
NG_008934.1:g.33692_33711del , LRG_289:g.33692_33711del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.483-10_492del
ENST00000333535.9:c.483-10_492del
ENST00000413689.6:c.483-10_492del
ENST00000423572.7:c.483-10_492del
ENST00000333535.8:c.483-10_492del
ENST00000413689.5:c.483-10_492del
ENST00000414099.6:c.483-10_492del
ENST00000423572.6:c.483-10_492del
ENST00000425664.5:c.483-10_492del
ENST00000449557.6:c.483-10_492del
ENST00000450102.6:c.483-10_492del
ENST00000451551.6:c.483-10_492del
ENST00000455624.6:c.483-10_492del
ENST00000491944.1:n.678-10_687del
ENST00000612060.1:c.483-10_492del
NM_000335.4:c.483-10_492del , LRG_289t2:c.483-10_492del
NM_001099404.1:c.483-10_492del , LRG_289t3:c.483-10_492del
NM_001099405.1:c.483-10_492del
NM_001160160.1:c.483-10_492del
NM_001160161.1:c.483-10_492del
NM_198056.2:c.483-10_492del , LRG_289t1:c.483-10_492del
XM_006713282.2:c.483-10_492del
XM_011533991.1:c.483-10_492del
XM_011533992.1:c.482+1419_482+1438del	XP_011532294.1:n.482+1419_482+1438del
NM_001354701.1:c.483-10_492del
XM_011533991.2:c.483-10_492del
XM_017007017.1:c.483-10_492del
NM_000335.5:c.483-10_492del
NM_001160160.2:c.483-10_492del
NM_001354701.2:c.483-10_492del
NM_001099404.2:c.483-10_492del
NM_001099405.2:c.483-10_492del
NM_001160161.2:c.483-10_492del
NM_198056.3:c.483-10_492del