Canonical Allele Identifier: CA2665110265

Gene: SCN5A

Linked Data

• gnomAD v4: 3-38554330-TGAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38554332_38554334del , CM000665.2:g.38554332_38554334del	GRCh38
NC_000003.11:g.38595823_38595825del , CM000665.1:g.38595823_38595825del	GRCh37
NC_000003.10:g.38570827_38570829del	NCBI36
NG_008934.1:g.100340_100342del , LRG_289:g.100340_100342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4756_4758del	ENSP00000333674.7:p.Phe1586del
ENST00000333535.9:c.4759_4761del	ENSP00000328968.4:p.Phe1587del
ENST00000413689.6:c.4759_4761del MANE Plus Clinical	ENSP00000410257.1:p.Phe1587del
ENST00000423572.7:c.4756_4758del MANE Select	ENSP00000398266.2:p.Phe1586del
ENST00000333535.8:c.4759_4761del	ENSP00000328968.4:p.Phe1587del
ENST00000413689.5:c.4759_4761del	ENSP00000410257.1:p.Phe1587del
ENST00000414099.6:c.4705_4707del	ENSP00000398962.2:p.Phe1569del
ENST00000423572.6:c.4756_4758del	ENSP00000398266.2:p.Phe1586del
ENST00000425664.5:c.4705_4707del	ENSP00000416634.1:p.Phe1569del
ENST00000449557.6:c.4597_4599del	ENSP00000413996.2:p.Phe1533del
ENST00000450102.6:c.4597_4599del	ENSP00000403355.2:p.Phe1533del
ENST00000451551.6:c.4597_4599del	ENSP00000388797.2:p.Phe1533del
ENST00000455624.6:c.4714+42_4714+44del	ENSP00000399524.2:n.4714+42_4714+44del
ENST00000464652.1:n.217_219del
NM_000335.4:c.4756_4758del , LRG_289t2:c.4756_4758del	NP_000326.2:p.Phe1586del
NM_001099404.1:c.4759_4761del , LRG_289t3:c.4759_4761del	NP_001092874.1:p.Phe1587del
NM_001099405.1:c.4705_4707del	NP_001092875.1:p.Phe1569del
NM_001160160.1:c.4714+42_4714+44del	NP_001153632.1:n.4714+42_4714+44del
NM_001160161.1:c.4597_4599del	NP_001153633.1:p.Phe1533del
NM_198056.2:c.4759_4761del , LRG_289t1:c.4759_4761del	NP_932173.1:p.Phe1587del
XM_006713282.2:c.4759_4761del	XP_006713345.1:p.Phe1587del
XM_011533991.1:c.4756_4758del	XP_011532293.1:p.Phe1586del
XM_011533992.1:c.4630_4632del	XP_011532294.1:p.Phe1544del
NM_001354701.1:c.4702_4704del	NP_001341630.1:p.Phe1568del
XM_011533991.2:c.4756_4758del	XP_011532293.1:p.Phe1586del
XM_017007017.1:c.4597_4599del	XP_016862506.1:p.Phe1533del
NM_000335.5:c.4756_4758del MANE Select	NP_000326.2:p.Phe1586del
NM_001160160.2:c.4714+42_4714+44del	NP_001153632.1:n.4714+42_4714+44del
NM_001354701.2:c.4702_4704del	NP_001341630.1:p.Phe1568del
NM_001099404.2:c.4759_4761del MANE Plus Clinical	NP_001092874.1:p.Phe1587del
NM_001099405.2:c.4705_4707del	NP_001092875.1:p.Phe1569del
NM_001160161.2:c.4597_4599del	NP_001153633.1:p.Phe1533del
NM_198056.3:c.4759_4761del	NP_932173.1:p.Phe1587del