Canonical Allele Identifier: CA2510554108
Gene: SCN5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38551303_38551304insACATTGC , CM000665.2:g.38551303_38551304insACATTGC GRCh38
NC_000003.11:g.38592794_38592795insACATTGC , CM000665.1:g.38592794_38592795insACATTGC GRCh37
NC_000003.10:g.38567798_38567799insACATTGC NCBI36
NG_008934.1:g.103369_103370insGCAATGT , LRG_289:g.103369_103370insGCAATGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000327956.7:c.5065_5066insGCAATGT ENSP00000333674.7:p.Asp1689GlyfsTer?
ENST00000333535.9:c.5068_5069insGCAATGT ENSP00000328968.4:p.Asp1690GlyfsTer?
ENST00000413689.6:c.5068_5069insGCAATGT MANE Plus Clinical ENSP00000410257.1:p.Asp1690GlyfsTer?
ENST00000423572.7:c.5065_5066insGCAATGT MANE Select ENSP00000398266.2:p.Asp1689GlyfsTer?
ENST00000333535.8:c.5068_5069insGCAATGT ENSP00000328968.4:p.Asp1690GlyfsTer?
ENST00000413689.5:c.5068_5069insGCAATGT ENSP00000410257.1:p.Asp1690GlyfsTer?
ENST00000414099.6:c.5014_5015insGCAATGT ENSP00000398962.2:p.Asp1672GlyfsTer?
ENST00000423572.6:c.5065_5066insGCAATGT ENSP00000398266.2:p.Asp1689GlyfsTer?
ENST00000425664.5:c.5014_5015insGCAATGT ENSP00000416634.1:p.Asp1672GlyfsTer?
ENST00000449557.6:c.4906_4907insGCAATGT ENSP00000413996.2:p.Asp1636GlyfsTer?
ENST00000450102.6:c.4906_4907insGCAATGT ENSP00000403355.2:p.Asp1636GlyfsTer?
ENST00000451551.6:c.4906_4907insGCAATGT ENSP00000388797.2:p.Asp1636GlyfsTer?
ENST00000455624.6:c.4969_4970insGCAATGT ENSP00000399524.2:p.Asp1657GlyfsTer?
NM_000335.4:c.5065_5066insGCAATGT , LRG_289t2:c.5065_5066insGCAATGT NP_000326.2:p.Asp1689GlyfsTer?
NM_001099404.1:c.5068_5069insGCAATGT , LRG_289t3:c.5068_5069insGCAATGT NP_001092874.1:p.Asp1690GlyfsTer?
NM_001099405.1:c.5014_5015insGCAATGT NP_001092875.1:p.Asp1672GlyfsTer?
NM_001160160.1:c.4969_4970insGCAATGT NP_001153632.1:p.Asp1657GlyfsTer?
NM_001160161.1:c.4906_4907insGCAATGT NP_001153633.1:p.Asp1636GlyfsTer?
NM_198056.2:c.5068_5069insGCAATGT , LRG_289t1:c.5068_5069insGCAATGT NP_932173.1:p.Asp1690GlyfsTer?
XM_006713282.2:c.5068_5069insGCAATGT XP_006713345.1:p.Asp1690GlyfsTer?
XM_011533991.1:c.5065_5066insGCAATGT XP_011532293.1:p.Asp1689GlyfsTer?
XM_011533992.1:c.4939_4940insGCAATGT XP_011532294.1:p.Asp1647GlyfsTer?
NM_001354701.1:c.5011_5012insGCAATGT NP_001341630.1:p.Asp1671GlyfsTer?
XM_011533991.2:c.5065_5066insGCAATGT XP_011532293.1:p.Asp1689GlyfsTer?
XM_017007017.1:c.4906_4907insGCAATGT XP_016862506.1:p.Asp1636GlyfsTer?
NM_000335.5:c.5065_5066insGCAATGT MANE Select NP_000326.2:p.Asp1689GlyfsTer?
NM_001160160.2:c.4969_4970insGCAATGT NP_001153632.1:p.Asp1657GlyfsTer?
NM_001354701.2:c.5011_5012insGCAATGT NP_001341630.1:p.Asp1671GlyfsTer?
NM_001099404.2:c.5068_5069insGCAATGT MANE Plus Clinical NP_001092874.1:p.Asp1690GlyfsTer?
NM_001099405.2:c.5014_5015insGCAATGT NP_001092875.1:p.Asp1672GlyfsTer?
NM_001160161.2:c.4906_4907insGCAATGT NP_001153633.1:p.Asp1636GlyfsTer?
NM_198056.3:c.5068_5069insGCAATGT NP_932173.1:p.Asp1690GlyfsTer?