Canonical Allele Identifier: CA2499216736

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550469_38550477dup , CM000665.2:g.38550469_38550477dup	GRCh38
NC_000003.11:g.38591960_38591968dup , CM000665.1:g.38591960_38591968dup	GRCh37
NC_000003.10:g.38566964_38566972dup	NCBI36
NG_008934.1:g.104204_104212dup , LRG_289:g.104204_104212dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000335.5:c.5900_5908dup MANE Select	NP_000326.2:p.Ser1969_Thr1970insIleSerSer
ENST00000423572.7:c.5900_5908dup MANE Select	ENSP00000398266.2:p.Ser1969_Thr1970insIleSerSer
NM_001099404.2:c.5903_5911dup MANE Plus Clinical	NP_001092874.1:p.Ser1970_Thr1971insIleSerSer
ENST00000413689.6:c.5903_5911dup MANE Plus Clinical	ENSP00000410257.1:p.Ser1970_Thr1971insIleSerSer
NM_000335.4:c.5900_5908dup , LRG_289t2:c.5900_5908dup	NP_000326.2:p.Ser1969_Thr1970insIleSerSer
NM_001099404.1:c.5903_5911dup , LRG_289t3:c.5903_5911dup	NP_001092874.1:p.Ser1970_Thr1971insIleSerSer
NM_001099405.1:c.5849_5857dup	NP_001092875.1:p.Ser1952_Thr1953insIleSerSer
NM_001099405.2:c.5849_5857dup	NP_001092875.1:p.Ser1952_Thr1953insIleSerSer
NM_001160160.1:c.5804_5812dup	NP_001153632.1:p.Ser1937_Thr1938insIleSerSer
NM_001160160.2:c.5804_5812dup	NP_001153632.1:p.Ser1937_Thr1938insIleSerSer
NM_001160161.1:c.5741_5749dup	NP_001153633.1:p.Ser1916_Thr1917insIleSerSer
NM_001160161.2:c.5741_5749dup	NP_001153633.1:p.Ser1916_Thr1917insIleSerSer
NM_001354701.1:c.5846_5854dup	NP_001341630.1:p.Ser1951_Thr1952insIleSerSer
NM_001354701.2:c.5846_5854dup	NP_001341630.1:p.Ser1951_Thr1952insIleSerSer
NM_198056.2:c.5903_5911dup , LRG_289t1:c.5903_5911dup	NP_932173.1:p.Ser1970_Thr1971insIleSerSer
NM_198056.3:c.5903_5911dup	NP_932173.1:p.Ser1970_Thr1971insIleSerSer
ENST00000327956.7:c.5900_5908dup	ENSP00000333674.7:p.Ser1969_Thr1970insIleSerSer
ENST00000333535.8:c.5903_5911dup	ENSP00000328968.4:p.Ser1970_Thr1971insIleSerSer
ENST00000333535.9:c.5903_5911dup	ENSP00000328968.4:p.Ser1970_Thr1971insIleSerSer
ENST00000413689.5:c.5903_5911dup	ENSP00000410257.1:p.Ser1970_Thr1971insIleSerSer
ENST00000414099.6:c.5849_5857dup	ENSP00000398962.2:p.Ser1952_Thr1953insIleSerSer
ENST00000423572.6:c.5900_5908dup	ENSP00000398266.2:p.Ser1969_Thr1970insIleSerSer
ENST00000425664.5:c.5849_5857dup	ENSP00000416634.1:p.Ser1952_Thr1953insIleSerSer
ENST00000449557.6:c.5741_5749dup	ENSP00000413996.2:p.Ser1916_Thr1917insIleSerSer
ENST00000450102.6:c.5741_5749dup	ENSP00000403355.2:p.Ser1916_Thr1917insIleSerSer
ENST00000451551.6:c.5741_5749dup	ENSP00000388797.2:p.Ser1916_Thr1917insIleSerSer
ENST00000455624.6:c.5804_5812dup	ENSP00000399524.2:p.Ser1937_Thr1938insIleSerSer
XM_006713282.2:c.5903_5911dup	XP_006713345.1:p.Ser1970_Thr1971insIleSerSer
XM_011533991.1:c.5900_5908dup	XP_011532293.1:p.Ser1969_Thr1970insIleSerSer
XM_011533991.2:c.5900_5908dup	XP_011532293.1:p.Ser1969_Thr1970insIleSerSer
XM_011533992.1:c.5774_5782dup	XP_011532294.1:p.Ser1927_Thr1928insIleSerSer
XM_017007017.1:c.5741_5749dup	XP_016862506.1:p.Ser1916_Thr1917insIleSerSer