Canonical Allele Identifier: CA16611455
Gene: SCN5A HGNC NCBI

Linked Data

dbSNP Id: rs1060501127

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.38550954_38550957del , CM000665.2:g.38550954_38550957del GRCh38
NC_000003.11:g.38592445_38592448del , CM000665.1:g.38592445_38592448del GRCh37
NC_000003.10:g.38567449_38567452del NCBI36
NG_008934.1:g.103718_103721del , LRG_289:g.103718_103721del

Transcript Alleles

HGVS Amino-acid change
ENST00000327956.7:c.5414_5417del ENSP00000333674.7:p.Thr1805SerfsTer27
ENST00000333535.9:c.5417_5420del ENSP00000328968.4:p.Thr1806SerfsTer27
ENST00000413689.6:c.5417_5420del MANE Plus Clinical ENSP00000410257.1:p.Thr1806SerfsTer27
ENST00000423572.7:c.5414_5417del MANE Select ENSP00000398266.2:p.Thr1805SerfsTer27
ENST00000333535.8:c.5417_5420del ENSP00000328968.4:p.Thr1806SerfsTer27
ENST00000413689.5:c.5417_5420del ENSP00000410257.1:p.Thr1806SerfsTer27
ENST00000414099.6:c.5363_5366del ENSP00000398962.2:p.Thr1788SerfsTer27
ENST00000423572.6:c.5414_5417del ENSP00000398266.2:p.Thr1805SerfsTer27
ENST00000425664.5:c.5363_5366del ENSP00000416634.1:p.Thr1788SerfsTer27
ENST00000449557.6:c.5255_5258del ENSP00000413996.2:p.Thr1752SerfsTer27
ENST00000450102.6:c.5255_5258del ENSP00000403355.2:p.Thr1752SerfsTer27
ENST00000451551.6:c.5255_5258del ENSP00000388797.2:p.Thr1752SerfsTer27
ENST00000455624.6:c.5318_5321del ENSP00000399524.2:p.Thr1773SerfsTer27
NM_000335.4:c.5414_5417del , LRG_289t2:c.5414_5417del NP_000326.2:p.Thr1805SerfsTer27
NM_001099404.1:c.5417_5420del , LRG_289t3:c.5417_5420del NP_001092874.1:p.Thr1806SerfsTer27
NM_001099405.1:c.5363_5366del NP_001092875.1:p.Thr1788SerfsTer27
NM_001160160.1:c.5318_5321del NP_001153632.1:p.Thr1773SerfsTer27
NM_001160161.1:c.5255_5258del NP_001153633.1:p.Thr1752SerfsTer27
NM_198056.2:c.5417_5420del , LRG_289t1:c.5417_5420del NP_932173.1:p.Thr1806SerfsTer27
XM_006713282.2:c.5417_5420del XP_006713345.1:p.Thr1806SerfsTer27
XM_011533991.1:c.5414_5417del XP_011532293.1:p.Thr1805SerfsTer27
XM_011533992.1:c.5288_5291del XP_011532294.1:p.Thr1763SerfsTer27
NM_001354701.1:c.5360_5363del NP_001341630.1:p.Thr1787SerfsTer27
XM_011533991.2:c.5414_5417del XP_011532293.1:p.Thr1805SerfsTer27
XM_017007017.1:c.5255_5258del XP_016862506.1:p.Thr1752SerfsTer27
NM_000335.5:c.5414_5417del MANE Select NP_000326.2:p.Thr1805SerfsTer27
NM_001160160.2:c.5318_5321del NP_001153632.1:p.Thr1773SerfsTer27
NM_001354701.2:c.5360_5363del NP_001341630.1:p.Thr1787SerfsTer27
NM_001099404.2:c.5417_5420del MANE Plus Clinical NP_001092874.1:p.Thr1806SerfsTer27
NM_001099405.2:c.5363_5366del NP_001092875.1:p.Thr1788SerfsTer27
NM_001160161.2:c.5255_5258del NP_001153633.1:p.Thr1752SerfsTer27
NM_198056.3:c.5417_5420del NP_932173.1:p.Thr1806SerfsTer27