Canonical Allele Identifier: CA1358556969

Gene: SCN5A

Linked Data

• dbSNP Id: rs2061022961

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550947_38550950del , CM000665.2:g.38550947_38550950del	GRCh38
NC_000003.11:g.38592438_38592441del , CM000665.1:g.38592438_38592441del	GRCh37
NC_000003.10:g.38567442_38567445del	NCBI36
NG_008934.1:g.103725_103728del , LRG_289:g.103725_103728del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.5421_5424del	ENSP00000333674.7:p.Phe1807LeufsTer25
ENST00000333535.9:c.5424_5427del	ENSP00000328968.4:p.Phe1808LeufsTer25
ENST00000413689.6:c.5424_5427del MANE Plus Clinical	ENSP00000410257.1:p.Phe1808LeufsTer25
ENST00000423572.7:c.5421_5424del MANE Select	ENSP00000398266.2:p.Phe1807LeufsTer25
ENST00000333535.8:c.5424_5427del	ENSP00000328968.4:p.Phe1808LeufsTer25
ENST00000413689.5:c.5424_5427del	ENSP00000410257.1:p.Phe1808LeufsTer25
ENST00000414099.6:c.5370_5373del	ENSP00000398962.2:p.Phe1790LeufsTer25
ENST00000423572.6:c.5421_5424del	ENSP00000398266.2:p.Phe1807LeufsTer25
ENST00000425664.5:c.5370_5373del	ENSP00000416634.1:p.Phe1790LeufsTer25
ENST00000449557.6:c.5262_5265del	ENSP00000413996.2:p.Phe1754LeufsTer25
ENST00000450102.6:c.5262_5265del	ENSP00000403355.2:p.Phe1754LeufsTer25
ENST00000451551.6:c.5262_5265del	ENSP00000388797.2:p.Phe1754LeufsTer25
ENST00000455624.6:c.5325_5328del	ENSP00000399524.2:p.Phe1775LeufsTer25
NM_000335.4:c.5421_5424del , LRG_289t2:c.5421_5424del	NP_000326.2:p.Phe1807LeufsTer25
NM_001099404.1:c.5424_5427del , LRG_289t3:c.5424_5427del	NP_001092874.1:p.Phe1808LeufsTer25
NM_001099405.1:c.5370_5373del	NP_001092875.1:p.Phe1790LeufsTer25
NM_001160160.1:c.5325_5328del	NP_001153632.1:p.Phe1775LeufsTer25
NM_001160161.1:c.5262_5265del	NP_001153633.1:p.Phe1754LeufsTer25
NM_198056.2:c.5424_5427del , LRG_289t1:c.5424_5427del	NP_932173.1:p.Phe1808LeufsTer25
XM_006713282.2:c.5424_5427del	XP_006713345.1:p.Phe1808LeufsTer25
XM_011533991.1:c.5421_5424del	XP_011532293.1:p.Phe1807LeufsTer25
XM_011533992.1:c.5295_5298del	XP_011532294.1:p.Phe1765LeufsTer25
NM_001354701.1:c.5367_5370del	NP_001341630.1:p.Phe1789LeufsTer25
XM_011533991.2:c.5421_5424del	XP_011532293.1:p.Phe1807LeufsTer25
XM_017007017.1:c.5262_5265del	XP_016862506.1:p.Phe1754LeufsTer25
NM_000335.5:c.5421_5424del MANE Select	NP_000326.2:p.Phe1807LeufsTer25
NM_001160160.2:c.5325_5328del	NP_001153632.1:p.Phe1775LeufsTer25
NM_001354701.2:c.5367_5370del	NP_001341630.1:p.Phe1789LeufsTer25
NM_001099404.2:c.5424_5427del MANE Plus Clinical	NP_001092874.1:p.Phe1808LeufsTer25
NM_001099405.2:c.5370_5373del	NP_001092875.1:p.Phe1790LeufsTer25
NM_001160161.2:c.5262_5265del	NP_001153633.1:p.Phe1754LeufsTer25
NM_198056.3:c.5424_5427del	NP_932173.1:p.Phe1808LeufsTer25