Canonical Allele Identifier: CA1358592252

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38620751_38620753delinsAAG , CM000665.2:g.38620751_38620753delinsAAG	GRCh38
NC_000003.11:g.38662242_38662244delinsAAG , CM000665.1:g.38662242_38662244delinsAAG	GRCh37
NC_000003.10:g.38637246_38637248delinsAAG	NCBI36
NG_008934.1:g.33920_33922delinsCTT , LRG_289:g.33920_33922delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.611+90_611+92delinsCTT	ENSP00000333674.7:n.611+90_611+92delinsCTT
ENST00000333535.9:c.611+90_611+92delinsCTT	ENSP00000328968.4:n.611+90_611+92delinsCTT
ENST00000413689.6:c.611+90_611+92delinsCTT MANE Plus Clinical	ENSP00000410257.1:n.611+90_611+92delinsCTT
ENST00000423572.7:c.611+90_611+92delinsCTT MANE Select	ENSP00000398266.2:n.611+90_611+92delinsCTT
ENST00000333535.8:c.611+90_611+92delinsCTT	ENSP00000328968.4:n.611+90_611+92delinsCTT
ENST00000413689.5:c.611+90_611+92delinsCTT	ENSP00000410257.1:n.611+90_611+92delinsCTT
ENST00000414099.6:c.611+90_611+92delinsCTT	ENSP00000398962.2:n.611+90_611+92delinsCTT
ENST00000423572.6:c.611+90_611+92delinsCTT	ENSP00000398266.2:n.611+90_611+92delinsCTT
ENST00000425664.5:c.611+90_611+92delinsCTT	ENSP00000416634.1:n.611+90_611+92delinsCTT
ENST00000449557.6:c.611+90_611+92delinsCTT	ENSP00000413996.2:n.611+90_611+92delinsCTT
ENST00000450102.6:c.611+90_611+92delinsCTT	ENSP00000403355.2:n.611+90_611+92delinsCTT
ENST00000451551.6:c.611+90_611+92delinsCTT	ENSP00000388797.2:n.611+90_611+92delinsCTT
ENST00000455624.6:c.611+90_611+92delinsCTT	ENSP00000399524.2:n.611+90_611+92delinsCTT
ENST00000491944.1:n.806+90_806+92delinsCTT
ENST00000612060.1:c.611+90_611+92delinsCTT	ENSP00000479016.1:n.611+90_611+92delinsCTT
NM_000335.4:c.611+90_611+92delinsCTT , LRG_289t2:c.611+90_611+92delinsCTT	NP_000326.2:n.611+90_611+92delinsCTT
NM_001099404.1:c.611+90_611+92delinsCTT , LRG_289t3:c.611+90_611+92delinsCTT	NP_001092874.1:n.611+90_611+92delinsCTT
NM_001099405.1:c.611+90_611+92delinsCTT	NP_001092875.1:n.611+90_611+92delinsCTT
NM_001160160.1:c.611+90_611+92delinsCTT	NP_001153632.1:n.611+90_611+92delinsCTT
NM_001160161.1:c.611+90_611+92delinsCTT	NP_001153633.1:n.611+90_611+92delinsCTT
NM_198056.2:c.611+90_611+92delinsCTT , LRG_289t1:c.611+90_611+92delinsCTT	NP_932173.1:n.611+90_611+92delinsCTT
XM_006713282.2:c.611+90_611+92delinsCTT	XP_006713345.1:n.611+90_611+92delinsCTT
XM_011533991.1:c.611+90_611+92delinsCTT	XP_011532293.1:n.611+90_611+92delinsCTT
XM_011533992.1:c.482+1647_482+1649delinsCTT	XP_011532294.1:n.482+1647_482+1649delinsCTT
NM_001354701.1:c.611+90_611+92delinsCTT	NP_001341630.1:n.611+90_611+92delinsCTT
XM_011533991.2:c.611+90_611+92delinsCTT	XP_011532293.1:n.611+90_611+92delinsCTT
XM_017007017.1:c.611+90_611+92delinsCTT	XP_016862506.1:n.611+90_611+92delinsCTT
NM_000335.5:c.611+90_611+92delinsCTT MANE Select	NP_000326.2:n.611+90_611+92delinsCTT
NM_001160160.2:c.611+90_611+92delinsCTT	NP_001153632.1:n.611+90_611+92delinsCTT
NM_001354701.2:c.611+90_611+92delinsCTT	NP_001341630.1:n.611+90_611+92delinsCTT
NM_001099404.2:c.611+90_611+92delinsCTT MANE Plus Clinical	NP_001092874.1:n.611+90_611+92delinsCTT
NM_001099405.2:c.611+90_611+92delinsCTT	NP_001092875.1:n.611+90_611+92delinsCTT
NM_001160161.2:c.611+90_611+92delinsCTT	NP_001153633.1:n.611+90_611+92delinsCTT
NM_198056.3:c.611+90_611+92delinsCTT	NP_932173.1:n.611+90_611+92delinsCTT