Canonical Allele Identifier: CA1046987119

Gene: SCN5A

Linked Data

• gnomAD v3: 3-38551536-GATGA-G
• gnomAD v4: 3-38551536-GATGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551537_38551540del , CM000665.2:g.38551537_38551540del	GRCh38
NC_000003.11:g.38593028_38593031del , CM000665.1:g.38593028_38593031del	GRCh37
NC_000003.10:g.38568032_38568035del	NCBI36
NG_008934.1:g.103133_103136del , LRG_289:g.103133_103136del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4829_4832del	ENSP00000333674.7:p.Ile1610ThrfsTer19
ENST00000333535.9:c.4832_4835del	ENSP00000328968.4:p.Ile1611ThrfsTer19
ENST00000413689.6:c.4832_4835del MANE Plus Clinical	ENSP00000410257.1:p.Ile1611ThrfsTer19
ENST00000423572.7:c.4829_4832del MANE Select	ENSP00000398266.2:p.Ile1610ThrfsTer19
ENST00000333535.8:c.4832_4835del	ENSP00000328968.4:p.Ile1611ThrfsTer19
ENST00000413689.5:c.4832_4835del	ENSP00000410257.1:p.Ile1611ThrfsTer19
ENST00000414099.6:c.4778_4781del	ENSP00000398962.2:p.Ile1593ThrfsTer19
ENST00000423572.6:c.4829_4832del	ENSP00000398266.2:p.Ile1610ThrfsTer19
ENST00000425664.5:c.4778_4781del	ENSP00000416634.1:p.Ile1593ThrfsTer19
ENST00000449557.6:c.4670_4673del	ENSP00000413996.2:p.Ile1557ThrfsTer19
ENST00000450102.6:c.4670_4673del	ENSP00000403355.2:p.Ile1557ThrfsTer19
ENST00000451551.6:c.4670_4673del	ENSP00000388797.2:p.Ile1557ThrfsTer19
ENST00000455624.6:c.4733_4736del	ENSP00000399524.2:p.Ile1578ThrfsTer19
NM_000335.4:c.4829_4832del , LRG_289t2:c.4829_4832del	NP_000326.2:p.Ile1610ThrfsTer19
NM_001099404.1:c.4832_4835del , LRG_289t3:c.4832_4835del	NP_001092874.1:p.Ile1611ThrfsTer19
NM_001099405.1:c.4778_4781del	NP_001092875.1:p.Ile1593ThrfsTer19
NM_001160160.1:c.4733_4736del	NP_001153632.1:p.Ile1578ThrfsTer19
NM_001160161.1:c.4670_4673del	NP_001153633.1:p.Ile1557ThrfsTer19
NM_198056.2:c.4832_4835del , LRG_289t1:c.4832_4835del	NP_932173.1:p.Ile1611ThrfsTer19
XM_006713282.2:c.4832_4835del	XP_006713345.1:p.Ile1611ThrfsTer19
XM_011533991.1:c.4829_4832del	XP_011532293.1:p.Ile1610ThrfsTer19
XM_011533992.1:c.4703_4706del	XP_011532294.1:p.Ile1568ThrfsTer19
NM_001354701.1:c.4775_4778del	NP_001341630.1:p.Ile1592ThrfsTer19
XM_011533991.2:c.4829_4832del	XP_011532293.1:p.Ile1610ThrfsTer19
XM_017007017.1:c.4670_4673del	XP_016862506.1:p.Ile1557ThrfsTer19
NM_000335.5:c.4829_4832del MANE Select	NP_000326.2:p.Ile1610ThrfsTer19
NM_001160160.2:c.4733_4736del	NP_001153632.1:p.Ile1578ThrfsTer19
NM_001354701.2:c.4775_4778del	NP_001341630.1:p.Ile1592ThrfsTer19
NM_001099404.2:c.4832_4835del MANE Plus Clinical	NP_001092874.1:p.Ile1611ThrfsTer19
NM_001099405.2:c.4778_4781del	NP_001092875.1:p.Ile1593ThrfsTer19
NM_001160161.2:c.4670_4673del	NP_001153633.1:p.Ile1557ThrfsTer19
NM_198056.3:c.4832_4835del	NP_932173.1:p.Ile1611ThrfsTer19