Canonical Allele Identifier: CA2755899283
Gene: SCN5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38554119_38554120insTTAATTCTACTAATTTTCTCCT , CM000665.2:g.38554119_38554120insTTAATTCTACTAATTTTCTCCT GRCh38
NC_000003.11:g.38595610_38595611insTTAATTCTACTAATTTTCTCCT , CM000665.1:g.38595610_38595611insTTAATTCTACTAATTTTCTCCT GRCh37
NC_000003.10:g.38570614_38570615insTTAATTCTACTAATTTTCTCCT NCBI36
NG_008934.1:g.100554_100555insGGAGAAAATTAGTAGAATTAAA , LRG_289:g.100554_100555insGGAGAAAATTAGTAGAATTAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000327956.7:c.4810+160_4810+161insGGAGAAAATTAGTAGAATTAAA ENSP00000333674.7:n.4810+160_4810+161insGGAGAAAATTAGTAGAATTAA...
ENST00000333535.9:c.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA ENSP00000328968.4:n.4813+160_4813+161insGGAGAAAATTAGTAGAATTAA...
ENST00000413689.6:c.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA MANE Plus Clinical ENSP00000410257.1:n.4813+160_4813+161insGGAGAAAATTAGTAGAATTAA...
ENST00000423572.7:c.4810+160_4810+161insGGAGAAAATTAGTAGAATTAAA MANE Select ENSP00000398266.2:n.4810+160_4810+161insGGAGAAAATTAGTAGAATTAA...
ENST00000333535.8:c.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA ENSP00000328968.4:n.4813+160_4813+161insGGAGAAAATTAGTAGAATTAA...
ENST00000413689.5:c.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA ENSP00000410257.1:n.4813+160_4813+161insGGAGAAAATTAGTAGAATTAA...
ENST00000414099.6:c.4759+160_4759+161insGGAGAAAATTAGTAGAATTAAA ENSP00000398962.2:n.4759+160_4759+161insGGAGAAAATTAGTAGAATTAA...
ENST00000423572.6:c.4810+160_4810+161insGGAGAAAATTAGTAGAATTAAA ENSP00000398266.2:n.4810+160_4810+161insGGAGAAAATTAGTAGAATTAA...
ENST00000425664.5:c.4759+160_4759+161insGGAGAAAATTAGTAGAATTAAA ENSP00000416634.1:n.4759+160_4759+161insGGAGAAAATTAGTAGAATTAA...
ENST00000449557.6:c.4651+160_4651+161insGGAGAAAATTAGTAGAATTAAA ENSP00000413996.2:n.4651+160_4651+161insGGAGAAAATTAGTAGAATTAA...
ENST00000450102.6:c.4651+160_4651+161insGGAGAAAATTAGTAGAATTAAA ENSP00000403355.2:n.4651+160_4651+161insGGAGAAAATTAGTAGAATTAA...
ENST00000451551.6:c.4651+160_4651+161insGGAGAAAATTAGTAGAATTAAA ENSP00000388797.2:n.4651+160_4651+161insGGAGAAAATTAGTAGAATTAA...
ENST00000455624.6:c.4714+256_4714+257insGGAGAAAATTAGTAGAATTAAA ENSP00000399524.2:n.4714+256_4714+257insGGAGAAAATTAGTAGAATTAA...
ENST00000464652.1:n.271+160_271+161insGGAGAAAATTAGTAGAATTAAA
NM_000335.4:c.4810+160_4810+161insGGAGAAAATTAGTAGAATTAAA , LRG_289t2:c.4810+160_4810+161insGGAGAAAATTAGTAGAATTAAA NP_000326.2:n.4810+160_4810+161insGGAGAAAATTAGTAGAATTAAA
NM_001099404.1:c.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA , LRG_289t3:c.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA NP_001092874.1:n.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA
NM_001099405.1:c.4759+160_4759+161insGGAGAAAATTAGTAGAATTAAA NP_001092875.1:n.4759+160_4759+161insGGAGAAAATTAGTAGAATTAAA
NM_001160160.1:c.4714+256_4714+257insGGAGAAAATTAGTAGAATTAAA NP_001153632.1:n.4714+256_4714+257insGGAGAAAATTAGTAGAATTAAA
NM_001160161.1:c.4651+160_4651+161insGGAGAAAATTAGTAGAATTAAA NP_001153633.1:n.4651+160_4651+161insGGAGAAAATTAGTAGAATTAAA
NM_198056.2:c.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA , LRG_289t1:c.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA NP_932173.1:n.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA
XM_006713282.2:c.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA XP_006713345.1:n.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA
XM_011533991.1:c.4810+160_4810+161insGGAGAAAATTAGTAGAATTAAA XP_011532293.1:n.4810+160_4810+161insGGAGAAAATTAGTAGAATTAAA
XM_011533992.1:c.4684+160_4684+161insGGAGAAAATTAGTAGAATTAAA XP_011532294.1:n.4684+160_4684+161insGGAGAAAATTAGTAGAATTAAA
NM_001354701.1:c.4756+160_4756+161insGGAGAAAATTAGTAGAATTAAA NP_001341630.1:n.4756+160_4756+161insGGAGAAAATTAGTAGAATTAAA
XM_011533991.2:c.4810+160_4810+161insGGAGAAAATTAGTAGAATTAAA XP_011532293.1:n.4810+160_4810+161insGGAGAAAATTAGTAGAATTAAA
XM_017007017.1:c.4651+160_4651+161insGGAGAAAATTAGTAGAATTAAA XP_016862506.1:n.4651+160_4651+161insGGAGAAAATTAGTAGAATTAAA
NM_000335.5:c.4810+160_4810+161insGGAGAAAATTAGTAGAATTAAA MANE Select NP_000326.2:n.4810+160_4810+161insGGAGAAAATTAGTAGAATTAAA
NM_001160160.2:c.4714+256_4714+257insGGAGAAAATTAGTAGAATTAAA NP_001153632.1:n.4714+256_4714+257insGGAGAAAATTAGTAGAATTAAA
NM_001354701.2:c.4756+160_4756+161insGGAGAAAATTAGTAGAATTAAA NP_001341630.1:n.4756+160_4756+161insGGAGAAAATTAGTAGAATTAAA
NM_001099404.2:c.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA MANE Plus Clinical NP_001092874.1:n.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA
NM_001099405.2:c.4759+160_4759+161insGGAGAAAATTAGTAGAATTAAA NP_001092875.1:n.4759+160_4759+161insGGAGAAAATTAGTAGAATTAAA
NM_001160161.2:c.4651+160_4651+161insGGAGAAAATTAGTAGAATTAAA NP_001153633.1:n.4651+160_4651+161insGGAGAAAATTAGTAGAATTAAA
NM_198056.3:c.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA NP_932173.1:n.4813+160_4813+161insGGAGAAAATTAGTAGAATTAAA