Canonical Allele Identifier: CA2552185600
Gene: SCN5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38554123_38554124insAGAACGAACTTTTGCCGATCTAGCTCA , CM000665.2:g.38554123_38554124insAGAACGAACTTTTGCCGATCTAGCTCA GRCh38
NC_000003.11:g.38595614_38595615insAGAACGAACTTTTGCCGATCTAGCTCA , CM000665.1:g.38595614_38595615insAGAACGAACTTTTGCCGATCTAGCTCA GRCh37
NC_000003.10:g.38570618_38570619insAGAACGAACTTTTGCCGATCTAGCTCA NCBI36
NG_008934.1:g.100549_100550insTGAGCTAGATCGGCAAAAGTTCGTTCT , LRG_289:g.100549_100550insTGAGCTAGATCGGCAAAAGTTCGTTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000327956.7:c.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTTCGTTCT ENSP00000333674.7:n.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTT...
ENST00000333535.9:c.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGTTCT ENSP00000328968.4:n.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTT...
ENST00000413689.6:c.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGTTCT MANE Plus Clinical ENSP00000410257.1:n.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTT...
ENST00000423572.7:c.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTTCGTTCT MANE Select ENSP00000398266.2:n.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTT...
ENST00000333535.8:c.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGTTCT ENSP00000328968.4:n.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTT...
ENST00000413689.5:c.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGTTCT ENSP00000410257.1:n.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTT...
ENST00000414099.6:c.4759+155_4759+156insTGAGCTAGATCGGCAAAAGTTCGTTCT ENSP00000398962.2:n.4759+155_4759+156insTGAGCTAGATCGGCAAAAGTT...
ENST00000423572.6:c.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTTCGTTCT ENSP00000398266.2:n.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTT...
ENST00000425664.5:c.4759+155_4759+156insTGAGCTAGATCGGCAAAAGTTCGTTCT ENSP00000416634.1:n.4759+155_4759+156insTGAGCTAGATCGGCAAAAGTT...
ENST00000449557.6:c.4651+155_4651+156insTGAGCTAGATCGGCAAAAGTTCGTTCT ENSP00000413996.2:n.4651+155_4651+156insTGAGCTAGATCGGCAAAAGTT...
ENST00000450102.6:c.4651+155_4651+156insTGAGCTAGATCGGCAAAAGTTCGTTCT ENSP00000403355.2:n.4651+155_4651+156insTGAGCTAGATCGGCAAAAGTT...
ENST00000451551.6:c.4651+155_4651+156insTGAGCTAGATCGGCAAAAGTTCGTTCT ENSP00000388797.2:n.4651+155_4651+156insTGAGCTAGATCGGCAAAAGTT...
ENST00000455624.6:c.4714+251_4714+252insTGAGCTAGATCGGCAAAAGTTCGTTCT ENSP00000399524.2:n.4714+251_4714+252insTGAGCTAGATCGGCAAAAGTT...
ENST00000464652.1:n.271+155_271+156insTGAGCTAGATCGGCAAAAGTTCGTTCT
NM_000335.4:c.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTTCGTTCT , LRG_289t2:c.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTTCGTTCT NP_000326.2:n.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTTCGTTCT...
NM_001099404.1:c.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGTTCT , LRG_289t3:c.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGTTCT NP_001092874.1:n.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGT...
NM_001099405.1:c.4759+155_4759+156insTGAGCTAGATCGGCAAAAGTTCGTTCT NP_001092875.1:n.4759+155_4759+156insTGAGCTAGATCGGCAAAAGTTCGT...
NM_001160160.1:c.4714+251_4714+252insTGAGCTAGATCGGCAAAAGTTCGTTCT NP_001153632.1:n.4714+251_4714+252insTGAGCTAGATCGGCAAAAGTTCGT...
NM_001160161.1:c.4651+155_4651+156insTGAGCTAGATCGGCAAAAGTTCGTTCT NP_001153633.1:n.4651+155_4651+156insTGAGCTAGATCGGCAAAAGTTCGT...
NM_198056.2:c.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGTTCT , LRG_289t1:c.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGTTCT NP_932173.1:n.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGTTCT...
XM_006713282.2:c.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGTTCT XP_006713345.1:n.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGT...
XM_011533991.1:c.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTTCGTTCT XP_011532293.1:n.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTTCGT...
XM_011533992.1:c.4684+155_4684+156insTGAGCTAGATCGGCAAAAGTTCGTTCT XP_011532294.1:n.4684+155_4684+156insTGAGCTAGATCGGCAAAAGTTCGT...
NM_001354701.1:c.4756+155_4756+156insTGAGCTAGATCGGCAAAAGTTCGTTCT NP_001341630.1:n.4756+155_4756+156insTGAGCTAGATCGGCAAAAGTTCGT...
XM_011533991.2:c.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTTCGTTCT XP_011532293.1:n.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTTCGT...
XM_017007017.1:c.4651+155_4651+156insTGAGCTAGATCGGCAAAAGTTCGTTCT XP_016862506.1:n.4651+155_4651+156insTGAGCTAGATCGGCAAAAGTTCGT...
NM_000335.5:c.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTTCGTTCT MANE Select NP_000326.2:n.4810+155_4810+156insTGAGCTAGATCGGCAAAAGTTCGTTCT...
NM_001160160.2:c.4714+251_4714+252insTGAGCTAGATCGGCAAAAGTTCGTTCT NP_001153632.1:n.4714+251_4714+252insTGAGCTAGATCGGCAAAAGTTCGT...
NM_001354701.2:c.4756+155_4756+156insTGAGCTAGATCGGCAAAAGTTCGTTCT NP_001341630.1:n.4756+155_4756+156insTGAGCTAGATCGGCAAAAGTTCGT...
NM_001099404.2:c.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGTTCT MANE Plus Clinical NP_001092874.1:n.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGT...
NM_001099405.2:c.4759+155_4759+156insTGAGCTAGATCGGCAAAAGTTCGTTCT NP_001092875.1:n.4759+155_4759+156insTGAGCTAGATCGGCAAAAGTTCGT...
NM_001160161.2:c.4651+155_4651+156insTGAGCTAGATCGGCAAAAGTTCGTTCT NP_001153633.1:n.4651+155_4651+156insTGAGCTAGATCGGCAAAAGTTCGT...
NM_198056.3:c.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGTTCT NP_932173.1:n.4813+155_4813+156insTGAGCTAGATCGGCAAAAGTTCGTTCT...