Canonical Allele Identifier: CA2573136262

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 1452285
• ClinVar RCV Id: RCV003657541
• dbSNP Id: rs2125825662

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550925_38550928del , CM000665.2:g.38550925_38550928del	GRCh38
NC_000003.11:g.38592416_38592419del , CM000665.1:g.38592416_38592419del	GRCh37
NC_000003.10:g.38567420_38567423del	NCBI36
NG_008934.1:g.103747_103750del , LRG_289:g.103747_103750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5443_5446del	ENSP00000333674.7:p.Asp1815LeufsTer17
ENST00000333535.9:c.5446_5449del	ENSP00000328968.4:p.Asp1816LeufsTer17
ENST00000413689.6:c.5446_5449del MANE Plus Clinical	ENSP00000410257.1:p.Asp1816LeufsTer17
ENST00000423572.7:c.5443_5446del MANE Select	ENSP00000398266.2:p.Asp1815LeufsTer17
ENST00000333535.8:c.5446_5449del	ENSP00000328968.4:p.Asp1816LeufsTer17
ENST00000413689.5:c.5446_5449del	ENSP00000410257.1:p.Asp1816LeufsTer17
ENST00000414099.6:c.5392_5395del	ENSP00000398962.2:p.Asp1798LeufsTer17
ENST00000423572.6:c.5443_5446del	ENSP00000398266.2:p.Asp1815LeufsTer17
ENST00000425664.5:c.5392_5395del	ENSP00000416634.1:p.Asp1798LeufsTer17
ENST00000449557.6:c.5284_5287del	ENSP00000413996.2:p.Asp1762LeufsTer17
ENST00000450102.6:c.5284_5287del	ENSP00000403355.2:p.Asp1762LeufsTer17
ENST00000451551.6:c.5284_5287del	ENSP00000388797.2:p.Asp1762LeufsTer17
ENST00000455624.6:c.5347_5350del	ENSP00000399524.2:p.Asp1783LeufsTer17
NM_000335.4:c.5443_5446del , LRG_289t2:c.5443_5446del	NP_000326.2:p.Asp1815LeufsTer17
NM_001099404.1:c.5446_5449del , LRG_289t3:c.5446_5449del	NP_001092874.1:p.Asp1816LeufsTer17
NM_001099405.1:c.5392_5395del	NP_001092875.1:p.Asp1798LeufsTer17
NM_001160160.1:c.5347_5350del	NP_001153632.1:p.Asp1783LeufsTer17
NM_001160161.1:c.5284_5287del	NP_001153633.1:p.Asp1762LeufsTer17
NM_198056.2:c.5446_5449del , LRG_289t1:c.5446_5449del	NP_932173.1:p.Asp1816LeufsTer17
XM_006713282.2:c.5446_5449del	XP_006713345.1:p.Asp1816LeufsTer17
XM_011533991.1:c.5443_5446del	XP_011532293.1:p.Asp1815LeufsTer17
XM_011533992.1:c.5317_5320del	XP_011532294.1:p.Asp1773LeufsTer17
NM_001354701.1:c.5389_5392del	NP_001341630.1:p.Asp1797LeufsTer17
XM_011533991.2:c.5443_5446del	XP_011532293.1:p.Asp1815LeufsTer17
XM_017007017.1:c.5284_5287del	XP_016862506.1:p.Asp1762LeufsTer17
NM_000335.5:c.5443_5446del MANE Select	NP_000326.2:p.Asp1815LeufsTer17
NM_001160160.2:c.5347_5350del	NP_001153632.1:p.Asp1783LeufsTer17
NM_001354701.2:c.5389_5392del	NP_001341630.1:p.Asp1797LeufsTer17
NM_001099404.2:c.5446_5449del MANE Plus Clinical	NP_001092874.1:p.Asp1816LeufsTer17
NM_001099405.2:c.5392_5395del	NP_001092875.1:p.Asp1798LeufsTer17
NM_001160161.2:c.5284_5287del	NP_001153633.1:p.Asp1762LeufsTer17
NM_198056.3:c.5446_5449del	NP_932173.1:p.Asp1816LeufsTer17