Canonical Allele Identifier: CA1358556987

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550951_38550955delinsCTGAG , CM000665.2:g.38550951_38550955delinsCTGAG	GRCh38
NC_000003.11:g.38592442_38592446delinsCTGAG , CM000665.1:g.38592442_38592446delinsCTGAG	GRCh37
NC_000003.10:g.38567446_38567450delinsCTGAG	NCBI36
NG_008934.1:g.103718_103722delinsCTCAG , LRG_289:g.103718_103722delinsCTCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.5414_5418delinsCTCAG	ENSP00000333674.7:p.Thr1805=
ENST00000333535.9:c.5417_5421delinsCTCAG	ENSP00000328968.4:p.Thr1806=
ENST00000413689.6:c.5417_5421delinsCTCAG MANE Plus Clinical	ENSP00000410257.1:p.Thr1806=
ENST00000423572.7:c.5414_5418delinsCTCAG MANE Select	ENSP00000398266.2:p.Thr1805=
ENST00000333535.8:c.5417_5421delinsCTCAG	ENSP00000328968.4:p.Thr1806=
ENST00000413689.5:c.5417_5421delinsCTCAG	ENSP00000410257.1:p.Thr1806=
ENST00000414099.6:c.5363_5367delinsCTCAG	ENSP00000398962.2:p.Thr1788=
ENST00000423572.6:c.5414_5418delinsCTCAG	ENSP00000398266.2:p.Thr1805=
ENST00000425664.5:c.5363_5367delinsCTCAG	ENSP00000416634.1:p.Thr1788=
ENST00000449557.6:c.5255_5259delinsCTCAG	ENSP00000413996.2:p.Thr1752=
ENST00000450102.6:c.5255_5259delinsCTCAG	ENSP00000403355.2:p.Thr1752=
ENST00000451551.6:c.5255_5259delinsCTCAG	ENSP00000388797.2:p.Thr1752=
ENST00000455624.6:c.5318_5322delinsCTCAG	ENSP00000399524.2:p.Thr1773=
NM_000335.4:c.5414_5418delinsCTCAG , LRG_289t2:c.5414_5418delinsCTCAG	NP_000326.2:p.Thr1805=
NM_001099404.1:c.5417_5421delinsCTCAG , LRG_289t3:c.5417_5421delinsCTCAG	NP_001092874.1:p.Thr1806=
NM_001099405.1:c.5363_5367delinsCTCAG	NP_001092875.1:p.Thr1788=
NM_001160160.1:c.5318_5322delinsCTCAG	NP_001153632.1:p.Thr1773=
NM_001160161.1:c.5255_5259delinsCTCAG	NP_001153633.1:p.Thr1752=
NM_198056.2:c.5417_5421delinsCTCAG , LRG_289t1:c.5417_5421delinsCTCAG	NP_932173.1:p.Thr1806=
XM_006713282.2:c.5417_5421delinsCTCAG	XP_006713345.1:p.Thr1806=
XM_011533991.1:c.5414_5418delinsCTCAG	XP_011532293.1:p.Thr1805=
XM_011533992.1:c.5288_5292delinsCTCAG	XP_011532294.1:p.Thr1763=
NM_001354701.1:c.5360_5364delinsCTCAG	NP_001341630.1:p.Thr1787=
XM_011533991.2:c.5414_5418delinsCTCAG	XP_011532293.1:p.Thr1805=
XM_017007017.1:c.5255_5259delinsCTCAG	XP_016862506.1:p.Thr1752=
NM_000335.5:c.5414_5418delinsCTCAG MANE Select	NP_000326.2:p.Thr1805=
NM_001160160.2:c.5318_5322delinsCTCAG	NP_001153632.1:p.Thr1773=
NM_001354701.2:c.5360_5364delinsCTCAG	NP_001341630.1:p.Thr1787=
NM_001099404.2:c.5417_5421delinsCTCAG MANE Plus Clinical	NP_001092874.1:p.Thr1806=
NM_001099405.2:c.5363_5367delinsCTCAG	NP_001092875.1:p.Thr1788=
NM_001160161.2:c.5255_5259delinsCTCAG	NP_001153633.1:p.Thr1752=
NM_198056.3:c.5417_5421delinsCTCAG	NP_932173.1:p.Thr1806=