Canonical Allele Identifier: CA1358562977

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38554201_38554202delinsCA , CM000665.2:g.38554201_38554202delinsCA	GRCh38
NC_000003.11:g.38595692_38595693delinsCA , CM000665.1:g.38595692_38595693delinsCA	GRCh37
NC_000003.10:g.38570696_38570697delinsCA	NCBI36
NG_008934.1:g.100471_100472delinsTG , LRG_289:g.100471_100472delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4810+77_4810+78delinsTG	ENSP00000333674.7:n.4810+77_4810+78delinsTG
ENST00000333535.9:c.4813+77_4813+78delinsTG	ENSP00000328968.4:n.4813+77_4813+78delinsTG
ENST00000413689.6:c.4813+77_4813+78delinsTG MANE Plus Clinical	ENSP00000410257.1:n.4813+77_4813+78delinsTG
ENST00000423572.7:c.4810+77_4810+78delinsTG MANE Select	ENSP00000398266.2:n.4810+77_4810+78delinsTG
ENST00000333535.8:c.4813+77_4813+78delinsTG	ENSP00000328968.4:n.4813+77_4813+78delinsTG
ENST00000413689.5:c.4813+77_4813+78delinsTG	ENSP00000410257.1:n.4813+77_4813+78delinsTG
ENST00000414099.6:c.4759+77_4759+78delinsTG	ENSP00000398962.2:n.4759+77_4759+78delinsTG
ENST00000423572.6:c.4810+77_4810+78delinsTG	ENSP00000398266.2:n.4810+77_4810+78delinsTG
ENST00000425664.5:c.4759+77_4759+78delinsTG	ENSP00000416634.1:n.4759+77_4759+78delinsTG
ENST00000449557.6:c.4651+77_4651+78delinsTG	ENSP00000413996.2:n.4651+77_4651+78delinsTG
ENST00000450102.6:c.4651+77_4651+78delinsTG	ENSP00000403355.2:n.4651+77_4651+78delinsTG
ENST00000451551.6:c.4651+77_4651+78delinsTG	ENSP00000388797.2:n.4651+77_4651+78delinsTG
ENST00000455624.6:c.4714+173_4714+174delinsTG	ENSP00000399524.2:n.4714+173_4714+174delinsTG
ENST00000464652.1:n.271+77_271+78delinsTG
NM_000335.4:c.4810+77_4810+78delinsTG , LRG_289t2:c.4810+77_4810+78delinsTG	NP_000326.2:n.4810+77_4810+78delinsTG
NM_001099404.1:c.4813+77_4813+78delinsTG , LRG_289t3:c.4813+77_4813+78delinsTG	NP_001092874.1:n.4813+77_4813+78delinsTG
NM_001099405.1:c.4759+77_4759+78delinsTG	NP_001092875.1:n.4759+77_4759+78delinsTG
NM_001160160.1:c.4714+173_4714+174delinsTG	NP_001153632.1:n.4714+173_4714+174delinsTG
NM_001160161.1:c.4651+77_4651+78delinsTG	NP_001153633.1:n.4651+77_4651+78delinsTG
NM_198056.2:c.4813+77_4813+78delinsTG , LRG_289t1:c.4813+77_4813+78delinsTG	NP_932173.1:n.4813+77_4813+78delinsTG
XM_006713282.2:c.4813+77_4813+78delinsTG	XP_006713345.1:n.4813+77_4813+78delinsTG
XM_011533991.1:c.4810+77_4810+78delinsTG	XP_011532293.1:n.4810+77_4810+78delinsTG
XM_011533992.1:c.4684+77_4684+78delinsTG	XP_011532294.1:n.4684+77_4684+78delinsTG
NM_001354701.1:c.4756+77_4756+78delinsTG	NP_001341630.1:n.4756+77_4756+78delinsTG
XM_011533991.2:c.4810+77_4810+78delinsTG	XP_011532293.1:n.4810+77_4810+78delinsTG
XM_017007017.1:c.4651+77_4651+78delinsTG	XP_016862506.1:n.4651+77_4651+78delinsTG
NM_000335.5:c.4810+77_4810+78delinsTG MANE Select	NP_000326.2:n.4810+77_4810+78delinsTG
NM_001160160.2:c.4714+173_4714+174delinsTG	NP_001153632.1:n.4714+173_4714+174delinsTG
NM_001354701.2:c.4756+77_4756+78delinsTG	NP_001341630.1:n.4756+77_4756+78delinsTG
NM_001099404.2:c.4813+77_4813+78delinsTG MANE Plus Clinical	NP_001092874.1:n.4813+77_4813+78delinsTG
NM_001099405.2:c.4759+77_4759+78delinsTG	NP_001092875.1:n.4759+77_4759+78delinsTG
NM_001160161.2:c.4651+77_4651+78delinsTG	NP_001153633.1:n.4651+77_4651+78delinsTG
NM_198056.3:c.4813+77_4813+78delinsTG	NP_932173.1:n.4813+77_4813+78delinsTG