Canonical Allele Identifier: CA1358557173

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551014_38551016delinsCAG , CM000665.2:g.38551014_38551016delinsCAG	GRCh38
NC_000003.11:g.38592505_38592507delinsCAG , CM000665.1:g.38592505_38592507delinsCAG	GRCh37
NC_000003.10:g.38567509_38567511delinsCAG	NCBI36
NG_008934.1:g.103657_103659delinsCTG , LRG_289:g.103657_103659delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.5353_5355delinsCTG	ENSP00000333674.7:p.Leu1785=
ENST00000333535.9:c.5356_5358delinsCTG	ENSP00000328968.4:p.Leu1786=
ENST00000413689.6:c.5356_5358delinsCTG MANE Plus Clinical	ENSP00000410257.1:p.Leu1786=
ENST00000423572.7:c.5353_5355delinsCTG MANE Select	ENSP00000398266.2:p.Leu1785=
ENST00000333535.8:c.5356_5358delinsCTG	ENSP00000328968.4:p.Leu1786=
ENST00000413689.5:c.5356_5358delinsCTG	ENSP00000410257.1:p.Leu1786=
ENST00000414099.6:c.5302_5304delinsCTG	ENSP00000398962.2:p.Leu1768=
ENST00000423572.6:c.5353_5355delinsCTG	ENSP00000398266.2:p.Leu1785=
ENST00000425664.5:c.5302_5304delinsCTG	ENSP00000416634.1:p.Leu1768=
ENST00000449557.6:c.5194_5196delinsCTG	ENSP00000413996.2:p.Leu1732=
ENST00000450102.6:c.5194_5196delinsCTG	ENSP00000403355.2:p.Leu1732=
ENST00000451551.6:c.5194_5196delinsCTG	ENSP00000388797.2:p.Leu1732=
ENST00000455624.6:c.5257_5259delinsCTG	ENSP00000399524.2:p.Leu1753=
NM_000335.4:c.5353_5355delinsCTG , LRG_289t2:c.5353_5355delinsCTG	NP_000326.2:p.Leu1785=
NM_001099404.1:c.5356_5358delinsCTG , LRG_289t3:c.5356_5358delinsCTG	NP_001092874.1:p.Leu1786=
NM_001099405.1:c.5302_5304delinsCTG	NP_001092875.1:p.Leu1768=
NM_001160160.1:c.5257_5259delinsCTG	NP_001153632.1:p.Leu1753=
NM_001160161.1:c.5194_5196delinsCTG	NP_001153633.1:p.Leu1732=
NM_198056.2:c.5356_5358delinsCTG , LRG_289t1:c.5356_5358delinsCTG	NP_932173.1:p.Leu1786=
XM_006713282.2:c.5356_5358delinsCTG	XP_006713345.1:p.Leu1786=
XM_011533991.1:c.5353_5355delinsCTG	XP_011532293.1:p.Leu1785=
XM_011533992.1:c.5227_5229delinsCTG	XP_011532294.1:p.Leu1743=
NM_001354701.1:c.5299_5301delinsCTG	NP_001341630.1:p.Leu1767=
XM_011533991.2:c.5353_5355delinsCTG	XP_011532293.1:p.Leu1785=
XM_017007017.1:c.5194_5196delinsCTG	XP_016862506.1:p.Leu1732=
NM_000335.5:c.5353_5355delinsCTG MANE Select	NP_000326.2:p.Leu1785=
NM_001160160.2:c.5257_5259delinsCTG	NP_001153632.1:p.Leu1753=
NM_001354701.2:c.5299_5301delinsCTG	NP_001341630.1:p.Leu1767=
NM_001099404.2:c.5356_5358delinsCTG MANE Plus Clinical	NP_001092874.1:p.Leu1786=
NM_001099405.2:c.5302_5304delinsCTG	NP_001092875.1:p.Leu1768=
NM_001160161.2:c.5194_5196delinsCTG	NP_001153633.1:p.Leu1732=
NM_198056.3:c.5356_5358delinsCTG	NP_932173.1:p.Leu1786=