Canonical Allele Identifier: CA2509514503
Gene: SCN5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38554120_38554121insCCTACTCTATCTACCTAACGAGGTATATGCTCAAACTTCTCAGAATACTCAACGGCAACTTGAGGC , CM000665.2:g.38554120_38554121insCCTACTCTATCTACCTAACGAGGTATATGCTCAAACTTCTCAGAATACTCAACGGCAACTTGAGGC GRCh38
NC_000003.11:g.38595611_38595612insCCTACTCTATCTACCTAACGAGGTATATGCTCAAACTTCTCAGAATACTCAACGGCAACTTGAGGC , CM000665.1:g.38595611_38595612insCCTACTCTATCTACCTAACGAGGTATATGCTCAAACTTCTCAGAATACTCAACGGCAACTTGAGGC GRCh37
NC_000003.10:g.38570615_38570616insCCTACTCTATCTACCTAACGAGGTATATGCTCAAACTTCTCAGAATACTCAACGGCAACTTGAGGC NCBI36
NG_008934.1:g.100552_100553insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG , LRG_289:g.100552_100553insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000327956.7:c.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG ENSP00000333674.7:n.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTA...
ENST00000333535.9:c.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG ENSP00000328968.4:n.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTA...
ENST00000413689.6:c.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG MANE Plus Clinical ENSP00000410257.1:n.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTA...
ENST00000423572.7:c.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG MANE Select ENSP00000398266.2:n.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTA...
ENST00000333535.8:c.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG ENSP00000328968.4:n.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTA...
ENST00000413689.5:c.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG ENSP00000410257.1:n.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTA...
ENST00000414099.6:c.4759+158_4759+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG ENSP00000398962.2:n.4759+158_4759+159insGCCTCAAGTTGCCGTTGAGTA...
ENST00000423572.6:c.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG ENSP00000398266.2:n.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTA...
ENST00000425664.5:c.4759+158_4759+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG ENSP00000416634.1:n.4759+158_4759+159insGCCTCAAGTTGCCGTTGAGTA...
ENST00000449557.6:c.4651+158_4651+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG ENSP00000413996.2:n.4651+158_4651+159insGCCTCAAGTTGCCGTTGAGTA...
ENST00000450102.6:c.4651+158_4651+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG ENSP00000403355.2:n.4651+158_4651+159insGCCTCAAGTTGCCGTTGAGTA...
ENST00000451551.6:c.4651+158_4651+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG ENSP00000388797.2:n.4651+158_4651+159insGCCTCAAGTTGCCGTTGAGTA...
ENST00000455624.6:c.4714+254_4714+255insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG ENSP00000399524.2:n.4714+254_4714+255insGCCTCAAGTTGCCGTTGAGTA...
ENST00000464652.1:n.271+158_271+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG
NM_000335.4:c.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG , LRG_289t2:c.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG NP_000326.2:n.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTATTCTGA...
NM_001099404.1:c.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG , LRG_289t3:c.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG NP_001092874.1:n.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTC...
NM_001099405.1:c.4759+158_4759+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG NP_001092875.1:n.4759+158_4759+159insGCCTCAAGTTGCCGTTGAGTATTC...
NM_001160160.1:c.4714+254_4714+255insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG NP_001153632.1:n.4714+254_4714+255insGCCTCAAGTTGCCGTTGAGTATTC...
NM_001160161.1:c.4651+158_4651+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG NP_001153633.1:n.4651+158_4651+159insGCCTCAAGTTGCCGTTGAGTATTC...
NM_198056.2:c.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG , LRG_289t1:c.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG NP_932173.1:n.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTCTGA...
XM_006713282.2:c.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG XP_006713345.1:n.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTC...
XM_011533991.1:c.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG XP_011532293.1:n.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTATTC...
XM_011533992.1:c.4684+158_4684+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG XP_011532294.1:n.4684+158_4684+159insGCCTCAAGTTGCCGTTGAGTATTC...
NM_001354701.1:c.4756+158_4756+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG NP_001341630.1:n.4756+158_4756+159insGCCTCAAGTTGCCGTTGAGTATTC...
XM_011533991.2:c.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG XP_011532293.1:n.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTATTC...
XM_017007017.1:c.4651+158_4651+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG XP_016862506.1:n.4651+158_4651+159insGCCTCAAGTTGCCGTTGAGTATTC...
NM_000335.5:c.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG MANE Select NP_000326.2:n.4810+158_4810+159insGCCTCAAGTTGCCGTTGAGTATTCTGA...
NM_001160160.2:c.4714+254_4714+255insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG NP_001153632.1:n.4714+254_4714+255insGCCTCAAGTTGCCGTTGAGTATTC...
NM_001354701.2:c.4756+158_4756+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG NP_001341630.1:n.4756+158_4756+159insGCCTCAAGTTGCCGTTGAGTATTC...
NM_001099404.2:c.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG MANE Plus Clinical NP_001092874.1:n.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTC...
NM_001099405.2:c.4759+158_4759+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG NP_001092875.1:n.4759+158_4759+159insGCCTCAAGTTGCCGTTGAGTATTC...
NM_001160161.2:c.4651+158_4651+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG NP_001153633.1:n.4651+158_4651+159insGCCTCAAGTTGCCGTTGAGTATTC...
NM_198056.3:c.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTCTGAGAAGTTTGAGCATATACCTCGTTAGGTAGATAGAGTAGG NP_932173.1:n.4813+158_4813+159insGCCTCAAGTTGCCGTTGAGTATTCTGA...