Canonical Allele Identifier: CA2665110117

Gene: SCN5A

Linked Data

• gnomAD v4: 3-38554226-A-AGGAGAGGCGGGGCTGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38554234_38554235insGGGGCTGGGGGAGAGGC , CM000665.2:g.38554234_38554235insGGGGCTGGGGGAGAGGC	GRCh38
NC_000003.11:g.38595725_38595726insGGGGCTGGGGGAGAGGC , CM000665.1:g.38595725_38595726insGGGGCTGGGGGAGAGGC	GRCh37
NC_000003.10:g.38570729_38570730insGGGGCTGGGGGAGAGGC	NCBI36
NG_008934.1:g.100446_100447insCCCAGCCCCGCCTCTCC , LRG_289:g.100446_100447insCCCAGCCCCGCCTCTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4810+52_4810+53insCCCAGCCCCGCCTCTCC	ENSP00000333674.7:n.4810+52_4810+53insCCCAGCCCCGCCTCTCC
ENST00000333535.9:c.4813+52_4813+53insCCCAGCCCCGCCTCTCC	ENSP00000328968.4:n.4813+52_4813+53insCCCAGCCCCGCCTCTCC
ENST00000413689.6:c.4813+52_4813+53insCCCAGCCCCGCCTCTCC MANE Plus Clinical	ENSP00000410257.1:n.4813+52_4813+53insCCCAGCCCCGCCTCTCC
ENST00000423572.7:c.4810+52_4810+53insCCCAGCCCCGCCTCTCC MANE Select	ENSP00000398266.2:n.4810+52_4810+53insCCCAGCCCCGCCTCTCC
ENST00000333535.8:c.4813+52_4813+53insCCCAGCCCCGCCTCTCC	ENSP00000328968.4:n.4813+52_4813+53insCCCAGCCCCGCCTCTCC
ENST00000413689.5:c.4813+52_4813+53insCCCAGCCCCGCCTCTCC	ENSP00000410257.1:n.4813+52_4813+53insCCCAGCCCCGCCTCTCC
ENST00000414099.6:c.4759+52_4759+53insCCCAGCCCCGCCTCTCC	ENSP00000398962.2:n.4759+52_4759+53insCCCAGCCCCGCCTCTCC
ENST00000423572.6:c.4810+52_4810+53insCCCAGCCCCGCCTCTCC	ENSP00000398266.2:n.4810+52_4810+53insCCCAGCCCCGCCTCTCC
ENST00000425664.5:c.4759+52_4759+53insCCCAGCCCCGCCTCTCC	ENSP00000416634.1:n.4759+52_4759+53insCCCAGCCCCGCCTCTCC
ENST00000449557.6:c.4651+52_4651+53insCCCAGCCCCGCCTCTCC	ENSP00000413996.2:n.4651+52_4651+53insCCCAGCCCCGCCTCTCC
ENST00000450102.6:c.4651+52_4651+53insCCCAGCCCCGCCTCTCC	ENSP00000403355.2:n.4651+52_4651+53insCCCAGCCCCGCCTCTCC
ENST00000451551.6:c.4651+52_4651+53insCCCAGCCCCGCCTCTCC	ENSP00000388797.2:n.4651+52_4651+53insCCCAGCCCCGCCTCTCC
ENST00000455624.6:c.4714+148_4714+149insCCCAGCCCCGCCTCTCC	ENSP00000399524.2:n.4714+148_4714+149insCCCAGCCCCGCCTCTCC
ENST00000464652.1:n.271+52_271+53insCCCAGCCCCGCCTCTCC
NM_000335.4:c.4810+52_4810+53insCCCAGCCCCGCCTCTCC , LRG_289t2:c.4810+52_4810+53insCCCAGCCCCGCCTCTCC	NP_000326.2:n.4810+52_4810+53insCCCAGCCCCGCCTCTCC
NM_001099404.1:c.4813+52_4813+53insCCCAGCCCCGCCTCTCC , LRG_289t3:c.4813+52_4813+53insCCCAGCCCCGCCTCTCC	NP_001092874.1:n.4813+52_4813+53insCCCAGCCCCGCCTCTCC
NM_001099405.1:c.4759+52_4759+53insCCCAGCCCCGCCTCTCC	NP_001092875.1:n.4759+52_4759+53insCCCAGCCCCGCCTCTCC
NM_001160160.1:c.4714+148_4714+149insCCCAGCCCCGCCTCTCC	NP_001153632.1:n.4714+148_4714+149insCCCAGCCCCGCCTCTCC
NM_001160161.1:c.4651+52_4651+53insCCCAGCCCCGCCTCTCC	NP_001153633.1:n.4651+52_4651+53insCCCAGCCCCGCCTCTCC
NM_198056.2:c.4813+52_4813+53insCCCAGCCCCGCCTCTCC , LRG_289t1:c.4813+52_4813+53insCCCAGCCCCGCCTCTCC	NP_932173.1:n.4813+52_4813+53insCCCAGCCCCGCCTCTCC
XM_006713282.2:c.4813+52_4813+53insCCCAGCCCCGCCTCTCC	XP_006713345.1:n.4813+52_4813+53insCCCAGCCCCGCCTCTCC
XM_011533991.1:c.4810+52_4810+53insCCCAGCCCCGCCTCTCC	XP_011532293.1:n.4810+52_4810+53insCCCAGCCCCGCCTCTCC
XM_011533992.1:c.4684+52_4684+53insCCCAGCCCCGCCTCTCC	XP_011532294.1:n.4684+52_4684+53insCCCAGCCCCGCCTCTCC
NM_001354701.1:c.4756+52_4756+53insCCCAGCCCCGCCTCTCC	NP_001341630.1:n.4756+52_4756+53insCCCAGCCCCGCCTCTCC
XM_011533991.2:c.4810+52_4810+53insCCCAGCCCCGCCTCTCC	XP_011532293.1:n.4810+52_4810+53insCCCAGCCCCGCCTCTCC
XM_017007017.1:c.4651+52_4651+53insCCCAGCCCCGCCTCTCC	XP_016862506.1:n.4651+52_4651+53insCCCAGCCCCGCCTCTCC
NM_000335.5:c.4810+52_4810+53insCCCAGCCCCGCCTCTCC MANE Select	NP_000326.2:n.4810+52_4810+53insCCCAGCCCCGCCTCTCC
NM_001160160.2:c.4714+148_4714+149insCCCAGCCCCGCCTCTCC	NP_001153632.1:n.4714+148_4714+149insCCCAGCCCCGCCTCTCC
NM_001354701.2:c.4756+52_4756+53insCCCAGCCCCGCCTCTCC	NP_001341630.1:n.4756+52_4756+53insCCCAGCCCCGCCTCTCC
NM_001099404.2:c.4813+52_4813+53insCCCAGCCCCGCCTCTCC MANE Plus Clinical	NP_001092874.1:n.4813+52_4813+53insCCCAGCCCCGCCTCTCC
NM_001099405.2:c.4759+52_4759+53insCCCAGCCCCGCCTCTCC	NP_001092875.1:n.4759+52_4759+53insCCCAGCCCCGCCTCTCC
NM_001160161.2:c.4651+52_4651+53insCCCAGCCCCGCCTCTCC	NP_001153633.1:n.4651+52_4651+53insCCCAGCCCCGCCTCTCC
NM_198056.3:c.4813+52_4813+53insCCCAGCCCCGCCTCTCC	NP_932173.1:n.4813+52_4813+53insCCCAGCCCCGCCTCTCC