Canonical Allele Identifier: CA2573136285

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551292_38551295dup , CM000665.2:g.38551292_38551295dup	GRCh38
NC_000003.11:g.38592783_38592786dup , CM000665.1:g.38592783_38592786dup	GRCh37
NC_000003.10:g.38567787_38567790dup	NCBI36
NG_008934.1:g.103378_103381dup , LRG_289:g.103378_103381dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5074_5077dup	ENSP00000333674.7:p.Phe1693Ter
ENST00000333535.9:c.5077_5080dup	ENSP00000328968.4:p.Phe1694Ter
ENST00000413689.6:c.5077_5080dup MANE Plus Clinical	ENSP00000410257.1:p.Phe1694Ter
ENST00000423572.7:c.5074_5077dup MANE Select	ENSP00000398266.2:p.Phe1693Ter
ENST00000333535.8:c.5077_5080dup	ENSP00000328968.4:p.Phe1694Ter
ENST00000413689.5:c.5077_5080dup	ENSP00000410257.1:p.Phe1694Ter
ENST00000414099.6:c.5023_5026dup	ENSP00000398962.2:p.Phe1676Ter
ENST00000423572.6:c.5074_5077dup	ENSP00000398266.2:p.Phe1693Ter
ENST00000425664.5:c.5023_5026dup	ENSP00000416634.1:p.Phe1676Ter
ENST00000449557.6:c.4915_4918dup	ENSP00000413996.2:p.Phe1640Ter
ENST00000450102.6:c.4915_4918dup	ENSP00000403355.2:p.Phe1640Ter
ENST00000451551.6:c.4915_4918dup	ENSP00000388797.2:p.Phe1640Ter
ENST00000455624.6:c.4978_4981dup	ENSP00000399524.2:p.Phe1661Ter
NM_000335.4:c.5074_5077dup , LRG_289t2:c.5074_5077dup	NP_000326.2:p.Phe1693Ter
NM_001099404.1:c.5077_5080dup , LRG_289t3:c.5077_5080dup	NP_001092874.1:p.Phe1694Ter
NM_001099405.1:c.5023_5026dup	NP_001092875.1:p.Phe1676Ter
NM_001160160.1:c.4978_4981dup	NP_001153632.1:p.Phe1661Ter
NM_001160161.1:c.4915_4918dup	NP_001153633.1:p.Phe1640Ter
NM_198056.2:c.5077_5080dup , LRG_289t1:c.5077_5080dup	NP_932173.1:p.Phe1694Ter
XM_006713282.2:c.5077_5080dup	XP_006713345.1:p.Phe1694Ter
XM_011533991.1:c.5074_5077dup	XP_011532293.1:p.Phe1693Ter
XM_011533992.1:c.4948_4951dup	XP_011532294.1:p.Phe1651Ter
NM_001354701.1:c.5020_5023dup	NP_001341630.1:p.Phe1675Ter
XM_011533991.2:c.5074_5077dup	XP_011532293.1:p.Phe1693Ter
XM_017007017.1:c.4915_4918dup	XP_016862506.1:p.Phe1640Ter
NM_000335.5:c.5074_5077dup MANE Select	NP_000326.2:p.Phe1693Ter
NM_001160160.2:c.4978_4981dup	NP_001153632.1:p.Phe1661Ter
NM_001354701.2:c.5020_5023dup	NP_001341630.1:p.Phe1675Ter
NM_001099404.2:c.5077_5080dup MANE Plus Clinical	NP_001092874.1:p.Phe1694Ter
NM_001099405.2:c.5023_5026dup	NP_001092875.1:p.Phe1676Ter
NM_001160161.2:c.4915_4918dup	NP_001153633.1:p.Phe1640Ter
NM_198056.3:c.5077_5080dup	NP_932173.1:p.Phe1694Ter