Canonical Allele Identifier: CA2586965693

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38554383_38554385dup , CM000665.2:g.38554383_38554385dup	GRCh38
NC_000003.11:g.38595874_38595876dup , CM000665.1:g.38595874_38595876dup	GRCh37
NC_000003.10:g.38570878_38570880dup	NCBI36
NG_008934.1:g.100289_100291dup , LRG_289:g.100289_100291dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4705_4707dup	ENSP00000333674.7:p.Ile1569_Phe1570insIle
ENST00000333535.9:c.4708_4710dup	ENSP00000328968.4:p.Ile1570_Phe1571insIle
ENST00000413689.6:c.4708_4710dup MANE Plus Clinical	ENSP00000410257.1:p.Ile1570_Phe1571insIle
ENST00000423572.7:c.4705_4707dup MANE Select	ENSP00000398266.2:p.Ile1569_Phe1570insIle
ENST00000333535.8:c.4708_4710dup	ENSP00000328968.4:p.Ile1570_Phe1571insIle
ENST00000413689.5:c.4708_4710dup	ENSP00000410257.1:p.Ile1570_Phe1571insIle
ENST00000414099.6:c.4654_4656dup	ENSP00000398962.2:p.Ile1552_Phe1553insIle
ENST00000423572.6:c.4705_4707dup	ENSP00000398266.2:p.Ile1569_Phe1570insIle
ENST00000425664.5:c.4654_4656dup	ENSP00000416634.1:p.Ile1552_Phe1553insIle
ENST00000449557.6:c.4546_4548dup	ENSP00000413996.2:p.Ile1516_Phe1517insIle
ENST00000450102.6:c.4546_4548dup	ENSP00000403355.2:p.Ile1516_Phe1517insIle
ENST00000451551.6:c.4546_4548dup	ENSP00000388797.2:p.Ile1516_Phe1517insIle
ENST00000455624.6:c.4705_4707dup	ENSP00000399524.2:p.Ile1569_Phe1570insIle
ENST00000464652.1:n.166_168dup
NM_000335.4:c.4705_4707dup , LRG_289t2:c.4705_4707dup	NP_000326.2:p.Ile1569_Phe1570insIle
NM_001099404.1:c.4708_4710dup , LRG_289t3:c.4708_4710dup	NP_001092874.1:p.Ile1570_Phe1571insIle
NM_001099405.1:c.4654_4656dup	NP_001092875.1:p.Ile1552_Phe1553insIle
NM_001160160.1:c.4705_4707dup	NP_001153632.1:p.Ile1569_Phe1570insIle
NM_001160161.1:c.4546_4548dup	NP_001153633.1:p.Ile1516_Phe1517insIle
NM_198056.2:c.4708_4710dup , LRG_289t1:c.4708_4710dup	NP_932173.1:p.Ile1570_Phe1571insIle
XM_006713282.2:c.4708_4710dup	XP_006713345.1:p.Ile1570_Phe1571insIle
XM_011533991.1:c.4705_4707dup	XP_011532293.1:p.Ile1569_Phe1570insIle
XM_011533992.1:c.4579_4581dup	XP_011532294.1:p.Ile1527_Phe1528insIle
NM_001354701.1:c.4651_4653dup	NP_001341630.1:p.Ile1551_Phe1552insIle
XM_011533991.2:c.4705_4707dup	XP_011532293.1:p.Ile1569_Phe1570insIle
XM_017007017.1:c.4546_4548dup	XP_016862506.1:p.Ile1516_Phe1517insIle
NM_000335.5:c.4705_4707dup MANE Select	NP_000326.2:p.Ile1569_Phe1570insIle
NM_001160160.2:c.4705_4707dup	NP_001153632.1:p.Ile1569_Phe1570insIle
NM_001354701.2:c.4651_4653dup	NP_001341630.1:p.Ile1551_Phe1552insIle
NM_001099404.2:c.4708_4710dup MANE Plus Clinical	NP_001092874.1:p.Ile1570_Phe1571insIle
NM_001099405.2:c.4654_4656dup	NP_001092875.1:p.Ile1552_Phe1553insIle
NM_001160161.2:c.4546_4548dup	NP_001153633.1:p.Ile1516_Phe1517insIle
NM_198056.3:c.4708_4710dup	NP_932173.1:p.Ile1570_Phe1571insIle