Canonical Allele Identifier: CA2840067808

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550744dup , CM000665.2:g.38550744dup	GRCh38
NC_000003.11:g.38592235dup , CM000665.1:g.38592235dup	GRCh37
NC_000003.10:g.38567239dup	NCBI36
NG_008934.1:g.103930dup , LRG_289:g.103930dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5626dup	ENSP00000333674.7:p.Glu1876GlyfsTer?
ENST00000333535.9:c.5629dup	ENSP00000328968.4:p.Glu1877GlyfsTer?
ENST00000413689.6:c.5629dup MANE Plus Clinical	ENSP00000410257.1:p.Glu1877GlyfsTer?
ENST00000423572.7:c.5626dup MANE Select	ENSP00000398266.2:p.Glu1876GlyfsTer?
ENST00000333535.8:c.5629dup	ENSP00000328968.4:p.Glu1877GlyfsTer?
ENST00000413689.5:c.5629dup	ENSP00000410257.1:p.Glu1877GlyfsTer?
ENST00000414099.6:c.5575dup	ENSP00000398962.2:p.Glu1859GlyfsTer?
ENST00000423572.6:c.5626dup	ENSP00000398266.2:p.Glu1876GlyfsTer?
ENST00000425664.5:c.5575dup	ENSP00000416634.1:p.Glu1859GlyfsTer?
ENST00000449557.6:c.5467dup	ENSP00000413996.2:p.Glu1823GlyfsTer?
ENST00000450102.6:c.5467dup	ENSP00000403355.2:p.Glu1823GlyfsTer?
ENST00000451551.6:c.5467dup	ENSP00000388797.2:p.Glu1823GlyfsTer?
ENST00000455624.6:c.5530dup	ENSP00000399524.2:p.Glu1844GlyfsTer?
NM_000335.4:c.5626dup , LRG_289t2:c.5626dup	NP_000326.2:p.Glu1876GlyfsTer?
NM_001099404.1:c.5629dup , LRG_289t3:c.5629dup	NP_001092874.1:p.Glu1877GlyfsTer?
NM_001099405.1:c.5575dup	NP_001092875.1:p.Glu1859GlyfsTer?
NM_001160160.1:c.5530dup	NP_001153632.1:p.Glu1844GlyfsTer?
NM_001160161.1:c.5467dup	NP_001153633.1:p.Glu1823GlyfsTer?
NM_198056.2:c.5629dup , LRG_289t1:c.5629dup	NP_932173.1:p.Glu1877GlyfsTer?
XM_006713282.2:c.5629dup	XP_006713345.1:p.Glu1877GlyfsTer?
XM_011533991.1:c.5626dup	XP_011532293.1:p.Glu1876GlyfsTer?
XM_011533992.1:c.5500dup	XP_011532294.1:p.Glu1834GlyfsTer?
NM_001354701.1:c.5572dup	NP_001341630.1:p.Glu1858GlyfsTer?
XM_011533991.2:c.5626dup	XP_011532293.1:p.Glu1876GlyfsTer?
XM_017007017.1:c.5467dup	XP_016862506.1:p.Glu1823GlyfsTer?
NM_000335.5:c.5626dup MANE Select	NP_000326.2:p.Glu1876GlyfsTer?
NM_001160160.2:c.5530dup	NP_001153632.1:p.Glu1844GlyfsTer?
NM_001354701.2:c.5572dup	NP_001341630.1:p.Glu1858GlyfsTer?
NM_001099404.2:c.5629dup MANE Plus Clinical	NP_001092874.1:p.Glu1877GlyfsTer?
NM_001099405.2:c.5575dup	NP_001092875.1:p.Glu1859GlyfsTer?
NM_001160161.2:c.5467dup	NP_001153633.1:p.Glu1823GlyfsTer?
NM_198056.3:c.5629dup	NP_932173.1:p.Glu1877GlyfsTer?