Canonical Allele Identifier: CA2586965705

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38555679_38555687dup , CM000665.2:g.38555679_38555687dup	GRCh38
NC_000003.11:g.38597170_38597178dup , CM000665.1:g.38597170_38597178dup	GRCh37
NC_000003.10:g.38572174_38572182dup	NCBI36
NG_008934.1:g.98994_99002dup , LRG_289:g.98994_99002dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4516_4524dup	ENSP00000333674.7:p.Pro1508_Ile1509insGlnLysPro
ENST00000333535.9:c.4519_4527dup	ENSP00000328968.4:p.Pro1509_Ile1510insGlnLysPro
ENST00000413689.6:c.4519_4527dup MANE Plus Clinical	ENSP00000410257.1:p.Pro1509_Ile1510insGlnLysPro
ENST00000423572.7:c.4516_4524dup MANE Select	ENSP00000398266.2:p.Pro1508_Ile1509insGlnLysPro
ENST00000333535.8:c.4519_4527dup	ENSP00000328968.4:p.Pro1509_Ile1510insGlnLysPro
ENST00000413689.5:c.4519_4527dup	ENSP00000410257.1:p.Pro1509_Ile1510insGlnLysPro
ENST00000414099.6:c.4465_4473dup	ENSP00000398962.2:p.Pro1491_Ile1492insGlnLysPro
ENST00000423572.6:c.4516_4524dup	ENSP00000398266.2:p.Pro1508_Ile1509insGlnLysPro
ENST00000425664.5:c.4465_4473dup	ENSP00000416634.1:p.Pro1491_Ile1492insGlnLysPro
ENST00000449557.6:c.4357_4365dup	ENSP00000413996.2:p.Pro1455_Ile1456insGlnLysPro
ENST00000450102.6:c.4357_4365dup	ENSP00000403355.2:p.Pro1455_Ile1456insGlnLysPro
ENST00000451551.6:c.4357_4365dup	ENSP00000388797.2:p.Pro1455_Ile1456insGlnLysPro
ENST00000455624.6:c.4516_4524dup	ENSP00000399524.2:p.Pro1508_Ile1509insGlnLysPro
NM_000335.4:c.4516_4524dup , LRG_289t2:c.4516_4524dup	NP_000326.2:p.Pro1508_Ile1509insGlnLysPro
NM_001099404.1:c.4519_4527dup , LRG_289t3:c.4519_4527dup	NP_001092874.1:p.Pro1509_Ile1510insGlnLysPro
NM_001099405.1:c.4465_4473dup	NP_001092875.1:p.Pro1491_Ile1492insGlnLysPro
NM_001160160.1:c.4516_4524dup	NP_001153632.1:p.Pro1508_Ile1509insGlnLysPro
NM_001160161.1:c.4357_4365dup	NP_001153633.1:p.Pro1455_Ile1456insGlnLysPro
NM_198056.2:c.4519_4527dup , LRG_289t1:c.4519_4527dup	NP_932173.1:p.Pro1509_Ile1510insGlnLysPro
XM_006713282.2:c.4519_4527dup	XP_006713345.1:p.Pro1509_Ile1510insGlnLysPro
XM_011533991.1:c.4516_4524dup	XP_011532293.1:p.Pro1508_Ile1509insGlnLysPro
XM_011533992.1:c.4390_4398dup	XP_011532294.1:p.Pro1466_Ile1467insGlnLysPro
NM_001354701.1:c.4462_4470dup	NP_001341630.1:p.Pro1490_Ile1491insGlnLysPro
XM_011533991.2:c.4516_4524dup	XP_011532293.1:p.Pro1508_Ile1509insGlnLysPro
XM_017007017.1:c.4357_4365dup	XP_016862506.1:p.Pro1455_Ile1456insGlnLysPro
NM_000335.5:c.4516_4524dup MANE Select	NP_000326.2:p.Pro1508_Ile1509insGlnLysPro
NM_001160160.2:c.4516_4524dup	NP_001153632.1:p.Pro1508_Ile1509insGlnLysPro
NM_001354701.2:c.4462_4470dup	NP_001341630.1:p.Pro1490_Ile1491insGlnLysPro
NM_001099404.2:c.4519_4527dup MANE Plus Clinical	NP_001092874.1:p.Pro1509_Ile1510insGlnLysPro
NM_001099405.2:c.4465_4473dup	NP_001092875.1:p.Pro1491_Ile1492insGlnLysPro
NM_001160161.2:c.4357_4365dup	NP_001153633.1:p.Pro1455_Ile1456insGlnLysPro
NM_198056.3:c.4519_4527dup	NP_932173.1:p.Pro1509_Ile1510insGlnLysPro