Canonical Allele Identifier: CA1358555916

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550509_38550513delinsTCTCA , CM000665.2:g.38550509_38550513delinsTCTCA	GRCh38
NC_000003.11:g.38592000_38592004delinsTCTCA , CM000665.1:g.38592000_38592004delinsTCTCA	GRCh37
NC_000003.10:g.38567004_38567008delinsTCTCA	NCBI36
NG_008934.1:g.104160_104164delinsTGAGA , LRG_289:g.104160_104164delinsTGAGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.5856_5860delinsTGAGA	ENSP00000333674.7:p.Ser1952=
ENST00000333535.9:c.5859_5863delinsTGAGA	ENSP00000328968.4:p.Ser1953=
ENST00000413689.6:c.5859_5863delinsTGAGA MANE Plus Clinical	ENSP00000410257.1:p.Ser1953=
ENST00000423572.7:c.5856_5860delinsTGAGA MANE Select	ENSP00000398266.2:p.Ser1952=
ENST00000333535.8:c.5859_5863delinsTGAGA	ENSP00000328968.4:p.Ser1953=
ENST00000413689.5:c.5859_5863delinsTGAGA	ENSP00000410257.1:p.Ser1953=
ENST00000414099.6:c.5805_5809delinsTGAGA	ENSP00000398962.2:p.Ser1935=
ENST00000423572.6:c.5856_5860delinsTGAGA	ENSP00000398266.2:p.Ser1952=
ENST00000425664.5:c.5805_5809delinsTGAGA	ENSP00000416634.1:p.Ser1935=
ENST00000449557.6:c.5697_5701delinsTGAGA	ENSP00000413996.2:p.Ser1899=
ENST00000450102.6:c.5697_5701delinsTGAGA	ENSP00000403355.2:p.Ser1899=
ENST00000451551.6:c.5697_5701delinsTGAGA	ENSP00000388797.2:p.Ser1899=
ENST00000455624.6:c.5760_5764delinsTGAGA	ENSP00000399524.2:p.Ser1920=
NM_000335.4:c.5856_5860delinsTGAGA , LRG_289t2:c.5856_5860delinsTGAGA	NP_000326.2:p.Ser1952=
NM_001099404.1:c.5859_5863delinsTGAGA , LRG_289t3:c.5859_5863delinsTGAGA	NP_001092874.1:p.Ser1953=
NM_001099405.1:c.5805_5809delinsTGAGA	NP_001092875.1:p.Ser1935=
NM_001160160.1:c.5760_5764delinsTGAGA	NP_001153632.1:p.Ser1920=
NM_001160161.1:c.5697_5701delinsTGAGA	NP_001153633.1:p.Ser1899=
NM_198056.2:c.5859_5863delinsTGAGA , LRG_289t1:c.5859_5863delinsTGAGA	NP_932173.1:p.Ser1953=
XM_006713282.2:c.5859_5863delinsTGAGA	XP_006713345.1:p.Ser1953=
XM_011533991.1:c.5856_5860delinsTGAGA	XP_011532293.1:p.Ser1952=
XM_011533992.1:c.5730_5734delinsTGAGA	XP_011532294.1:p.Ser1910=
NM_001354701.1:c.5802_5806delinsTGAGA	NP_001341630.1:p.Ser1934=
XM_011533991.2:c.5856_5860delinsTGAGA	XP_011532293.1:p.Ser1952=
XM_017007017.1:c.5697_5701delinsTGAGA	XP_016862506.1:p.Ser1899=
NM_000335.5:c.5856_5860delinsTGAGA MANE Select	NP_000326.2:p.Ser1952=
NM_001160160.2:c.5760_5764delinsTGAGA	NP_001153632.1:p.Ser1920=
NM_001354701.2:c.5802_5806delinsTGAGA	NP_001341630.1:p.Ser1934=
NM_001099404.2:c.5859_5863delinsTGAGA MANE Plus Clinical	NP_001092874.1:p.Ser1953=
NM_001099405.2:c.5805_5809delinsTGAGA	NP_001092875.1:p.Ser1935=
NM_001160161.2:c.5697_5701delinsTGAGA	NP_001153633.1:p.Ser1899=
NM_198056.3:c.5859_5863delinsTGAGA	NP_932173.1:p.Ser1953=