Canonical Allele Identifier: CA1046987259

Gene: SCN5A

Linked Data

• gnomAD v3: 3-38551556-T-TC
• gnomAD v4: 3-38551556-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551556_38551557insC , CM000665.2:g.38551556_38551557insC	GRCh38
NC_000003.11:g.38593047_38593048insC , CM000665.1:g.38593047_38593048insC	GRCh37
NC_000003.10:g.38568051_38568052insC	NCBI36
NG_008934.1:g.103116_103117insG , LRG_289:g.103116_103117insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4812_4813insG	ENSP00000333674.7:p.Thr1605AspfsTer?
ENST00000333535.9:c.4815_4816insG	ENSP00000328968.4:p.Thr1606AspfsTer?
ENST00000413689.6:c.4815_4816insG MANE Plus Clinical	ENSP00000410257.1:p.Thr1606AspfsTer?
ENST00000423572.7:c.4812_4813insG MANE Select	ENSP00000398266.2:p.Thr1605AspfsTer?
ENST00000333535.8:c.4815_4816insG	ENSP00000328968.4:p.Thr1606AspfsTer?
ENST00000413689.5:c.4815_4816insG	ENSP00000410257.1:p.Thr1606AspfsTer?
ENST00000414099.6:c.4761_4762insG	ENSP00000398962.2:p.Thr1588AspfsTer?
ENST00000423572.6:c.4812_4813insG	ENSP00000398266.2:p.Thr1605AspfsTer?
ENST00000425664.5:c.4761_4762insG	ENSP00000416634.1:p.Thr1588AspfsTer?
ENST00000449557.6:c.4653_4654insG	ENSP00000413996.2:p.Thr1552AspfsTer?
ENST00000450102.6:c.4653_4654insG	ENSP00000403355.2:p.Thr1552AspfsTer?
ENST00000451551.6:c.4653_4654insG	ENSP00000388797.2:p.Thr1552AspfsTer?
ENST00000455624.6:c.4716_4717insG	ENSP00000399524.2:p.Thr1573AspfsTer?
NM_000335.4:c.4812_4813insG , LRG_289t2:c.4812_4813insG	NP_000326.2:p.Thr1605AspfsTer?
NM_001099404.1:c.4815_4816insG , LRG_289t3:c.4815_4816insG	NP_001092874.1:p.Thr1606AspfsTer?
NM_001099405.1:c.4761_4762insG	NP_001092875.1:p.Thr1588AspfsTer?
NM_001160160.1:c.4716_4717insG	NP_001153632.1:p.Thr1573AspfsTer?
NM_001160161.1:c.4653_4654insG	NP_001153633.1:p.Thr1552AspfsTer?
NM_198056.2:c.4815_4816insG , LRG_289t1:c.4815_4816insG	NP_932173.1:p.Thr1606AspfsTer?
XM_006713282.2:c.4815_4816insG	XP_006713345.1:p.Thr1606AspfsTer?
XM_011533991.1:c.4812_4813insG	XP_011532293.1:p.Thr1605AspfsTer?
XM_011533992.1:c.4686_4687insG	XP_011532294.1:p.Thr1563AspfsTer?
NM_001354701.1:c.4758_4759insG	NP_001341630.1:p.Thr1587AspfsTer?
XM_011533991.2:c.4812_4813insG	XP_011532293.1:p.Thr1605AspfsTer?
XM_017007017.1:c.4653_4654insG	XP_016862506.1:p.Thr1552AspfsTer?
NM_000335.5:c.4812_4813insG MANE Select	NP_000326.2:p.Thr1605AspfsTer?
NM_001160160.2:c.4716_4717insG	NP_001153632.1:p.Thr1573AspfsTer?
NM_001354701.2:c.4758_4759insG	NP_001341630.1:p.Thr1587AspfsTer?
NM_001099404.2:c.4815_4816insG MANE Plus Clinical	NP_001092874.1:p.Thr1606AspfsTer?
NM_001099405.2:c.4761_4762insG	NP_001092875.1:p.Thr1588AspfsTer?
NM_001160161.2:c.4653_4654insG	NP_001153633.1:p.Thr1552AspfsTer?
NM_198056.3:c.4815_4816insG	NP_932173.1:p.Thr1606AspfsTer?