Canonical Allele Identifier: CA2573052150

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 1303567
• ClinVar RCV Id: RCV001763025
• dbSNP Id: rs2125825339

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550824_38550832del , CM000665.2:g.38550824_38550832del	GRCh38
NC_000003.11:g.38592315_38592323del , CM000665.1:g.38592315_38592323del	GRCh37
NC_000003.10:g.38567319_38567327del	NCBI36
NG_008934.1:g.103845_103853del , LRG_289:g.103845_103853del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5541_5549del	ENSP00000333674.7:p.Ile1847_Cys1849del
ENST00000333535.9:c.5544_5552del	ENSP00000328968.4:p.Ile1848_Cys1850del
ENST00000413689.6:c.5544_5552del MANE Plus Clinical	ENSP00000410257.1:p.Ile1848_Cys1850del
ENST00000423572.7:c.5541_5549del MANE Select	ENSP00000398266.2:p.Ile1847_Cys1849del
ENST00000333535.8:c.5544_5552del	ENSP00000328968.4:p.Ile1848_Cys1850del
ENST00000413689.5:c.5544_5552del	ENSP00000410257.1:p.Ile1848_Cys1850del
ENST00000414099.6:c.5490_5498del	ENSP00000398962.2:p.Ile1830_Cys1832del
ENST00000423572.6:c.5541_5549del	ENSP00000398266.2:p.Ile1847_Cys1849del
ENST00000425664.5:c.5490_5498del	ENSP00000416634.1:p.Ile1830_Cys1832del
ENST00000449557.6:c.5382_5390del	ENSP00000413996.2:p.Ile1794_Cys1796del
ENST00000450102.6:c.5382_5390del	ENSP00000403355.2:p.Ile1794_Cys1796del
ENST00000451551.6:c.5382_5390del	ENSP00000388797.2:p.Ile1794_Cys1796del
ENST00000455624.6:c.5445_5453del	ENSP00000399524.2:p.Ile1815_Cys1817del
NM_000335.4:c.5541_5549del , LRG_289t2:c.5541_5549del	NP_000326.2:p.Ile1847_Cys1849del
NM_001099404.1:c.5544_5552del , LRG_289t3:c.5544_5552del	NP_001092874.1:p.Ile1848_Cys1850del
NM_001099405.1:c.5490_5498del	NP_001092875.1:p.Ile1830_Cys1832del
NM_001160160.1:c.5445_5453del	NP_001153632.1:p.Ile1815_Cys1817del
NM_001160161.1:c.5382_5390del	NP_001153633.1:p.Ile1794_Cys1796del
NM_198056.2:c.5544_5552del , LRG_289t1:c.5544_5552del	NP_932173.1:p.Ile1848_Cys1850del
XM_006713282.2:c.5544_5552del	XP_006713345.1:p.Ile1848_Cys1850del
XM_011533991.1:c.5541_5549del	XP_011532293.1:p.Ile1847_Cys1849del
XM_011533992.1:c.5415_5423del	XP_011532294.1:p.Ile1805_Cys1807del
NM_001354701.1:c.5487_5495del	NP_001341630.1:p.Ile1829_Cys1831del
XM_011533991.2:c.5541_5549del	XP_011532293.1:p.Ile1847_Cys1849del
XM_017007017.1:c.5382_5390del	XP_016862506.1:p.Ile1794_Cys1796del
NM_000335.5:c.5541_5549del MANE Select	NP_000326.2:p.Ile1847_Cys1849del
NM_001160160.2:c.5445_5453del	NP_001153632.1:p.Ile1815_Cys1817del
NM_001354701.2:c.5487_5495del	NP_001341630.1:p.Ile1829_Cys1831del
NM_001099404.2:c.5544_5552del MANE Plus Clinical	NP_001092874.1:p.Ile1848_Cys1850del
NM_001099405.2:c.5490_5498del	NP_001092875.1:p.Ile1830_Cys1832del
NM_001160161.2:c.5382_5390del	NP_001153633.1:p.Ile1794_Cys1796del
NM_198056.3:c.5544_5552del	NP_932173.1:p.Ile1848_Cys1850del