Canonical Allele Identifier: CA1358556880

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550909_38550911delinsCAG , CM000665.2:g.38550909_38550911delinsCAG	GRCh38
NC_000003.11:g.38592400_38592402delinsCAG , CM000665.1:g.38592400_38592402delinsCAG	GRCh37
NC_000003.10:g.38567404_38567406delinsCAG	NCBI36
NG_008934.1:g.103762_103764delinsCTG , LRG_289:g.103762_103764delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5458_5460delinsCTG	ENSP00000333674.7:p.Leu1820=
ENST00000333535.9:c.5461_5463delinsCTG	ENSP00000328968.4:p.Leu1821=
ENST00000413689.6:c.5461_5463delinsCTG MANE Plus Clinical	ENSP00000410257.1:p.Leu1821=
ENST00000423572.7:c.5458_5460delinsCTG MANE Select	ENSP00000398266.2:p.Leu1820=
ENST00000333535.8:c.5461_5463delinsCTG	ENSP00000328968.4:p.Leu1821=
ENST00000413689.5:c.5461_5463delinsCTG	ENSP00000410257.1:p.Leu1821=
ENST00000414099.6:c.5407_5409delinsCTG	ENSP00000398962.2:p.Leu1803=
ENST00000423572.6:c.5458_5460delinsCTG	ENSP00000398266.2:p.Leu1820=
ENST00000425664.5:c.5407_5409delinsCTG	ENSP00000416634.1:p.Leu1803=
ENST00000449557.6:c.5299_5301delinsCTG	ENSP00000413996.2:p.Leu1767=
ENST00000450102.6:c.5299_5301delinsCTG	ENSP00000403355.2:p.Leu1767=
ENST00000451551.6:c.5299_5301delinsCTG	ENSP00000388797.2:p.Leu1767=
ENST00000455624.6:c.5362_5364delinsCTG	ENSP00000399524.2:p.Leu1788=
NM_000335.4:c.5458_5460delinsCTG , LRG_289t2:c.5458_5460delinsCTG	NP_000326.2:p.Leu1820=
NM_001099404.1:c.5461_5463delinsCTG , LRG_289t3:c.5461_5463delinsCTG	NP_001092874.1:p.Leu1821=
NM_001099405.1:c.5407_5409delinsCTG	NP_001092875.1:p.Leu1803=
NM_001160160.1:c.5362_5364delinsCTG	NP_001153632.1:p.Leu1788=
NM_001160161.1:c.5299_5301delinsCTG	NP_001153633.1:p.Leu1767=
NM_198056.2:c.5461_5463delinsCTG , LRG_289t1:c.5461_5463delinsCTG	NP_932173.1:p.Leu1821=
XM_006713282.2:c.5461_5463delinsCTG	XP_006713345.1:p.Leu1821=
XM_011533991.1:c.5458_5460delinsCTG	XP_011532293.1:p.Leu1820=
XM_011533992.1:c.5332_5334delinsCTG	XP_011532294.1:p.Leu1778=
NM_001354701.1:c.5404_5406delinsCTG	NP_001341630.1:p.Leu1802=
XM_011533991.2:c.5458_5460delinsCTG	XP_011532293.1:p.Leu1820=
XM_017007017.1:c.5299_5301delinsCTG	XP_016862506.1:p.Leu1767=
NM_000335.5:c.5458_5460delinsCTG MANE Select	NP_000326.2:p.Leu1820=
NM_001160160.2:c.5362_5364delinsCTG	NP_001153632.1:p.Leu1788=
NM_001354701.2:c.5404_5406delinsCTG	NP_001341630.1:p.Leu1802=
NM_001099404.2:c.5461_5463delinsCTG MANE Plus Clinical	NP_001092874.1:p.Leu1821=
NM_001099405.2:c.5407_5409delinsCTG	NP_001092875.1:p.Leu1803=
NM_001160161.2:c.5299_5301delinsCTG	NP_001153633.1:p.Leu1767=
NM_198056.3:c.5461_5463delinsCTG	NP_932173.1:p.Leu1821=