Canonical Allele Identifier: CA2580069737

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 1748932
• ClinVar RCV Id: RCV002347332

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550709_38550711del , CM000665.2:g.38550709_38550711del	GRCh38
NC_000003.11:g.38592200_38592202del , CM000665.1:g.38592200_38592202del	GRCh37
NC_000003.10:g.38567204_38567206del	NCBI36
NG_008934.1:g.103964_103966del , LRG_289:g.103964_103966del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5660_5662del	ENSP00000333674.7:p.Ser1887del
ENST00000333535.9:c.5663_5665del	ENSP00000328968.4:p.Ser1888del
ENST00000413689.6:c.5663_5665del MANE Plus Clinical	ENSP00000410257.1:p.Ser1888del
ENST00000423572.7:c.5660_5662del MANE Select	ENSP00000398266.2:p.Ser1887del
ENST00000333535.8:c.5663_5665del	ENSP00000328968.4:p.Ser1888del
ENST00000413689.5:c.5663_5665del	ENSP00000410257.1:p.Ser1888del
ENST00000414099.6:c.5609_5611del	ENSP00000398962.2:p.Ser1870del
ENST00000423572.6:c.5660_5662del	ENSP00000398266.2:p.Ser1887del
ENST00000425664.5:c.5609_5611del	ENSP00000416634.1:p.Ser1870del
ENST00000449557.6:c.5501_5503del	ENSP00000413996.2:p.Ser1834del
ENST00000450102.6:c.5501_5503del	ENSP00000403355.2:p.Ser1834del
ENST00000451551.6:c.5501_5503del	ENSP00000388797.2:p.Ser1834del
ENST00000455624.6:c.5564_5566del	ENSP00000399524.2:p.Ser1855del
NM_000335.4:c.5660_5662del , LRG_289t2:c.5660_5662del	NP_000326.2:p.Ser1887del
NM_001099404.1:c.5663_5665del , LRG_289t3:c.5663_5665del	NP_001092874.1:p.Ser1888del
NM_001099405.1:c.5609_5611del	NP_001092875.1:p.Ser1870del
NM_001160160.1:c.5564_5566del	NP_001153632.1:p.Ser1855del
NM_001160161.1:c.5501_5503del	NP_001153633.1:p.Ser1834del
NM_198056.2:c.5663_5665del , LRG_289t1:c.5663_5665del	NP_932173.1:p.Ser1888del
XM_006713282.2:c.5663_5665del	XP_006713345.1:p.Ser1888del
XM_011533991.1:c.5660_5662del	XP_011532293.1:p.Ser1887del
XM_011533992.1:c.5534_5536del	XP_011532294.1:p.Ser1845del
NM_001354701.1:c.5606_5608del	NP_001341630.1:p.Ser1869del
XM_011533991.2:c.5660_5662del	XP_011532293.1:p.Ser1887del
XM_017007017.1:c.5501_5503del	XP_016862506.1:p.Ser1834del
NM_000335.5:c.5660_5662del MANE Select	NP_000326.2:p.Ser1887del
NM_001160160.2:c.5564_5566del	NP_001153632.1:p.Ser1855del
NM_001354701.2:c.5606_5608del	NP_001341630.1:p.Ser1869del
NM_001099404.2:c.5663_5665del MANE Plus Clinical	NP_001092874.1:p.Ser1888del
NM_001099405.2:c.5609_5611del	NP_001092875.1:p.Ser1870del
NM_001160161.2:c.5501_5503del	NP_001153633.1:p.Ser1834del
NM_198056.3:c.5663_5665del	NP_932173.1:p.Ser1888del