Canonical Allele Identifier: CA1046987076

Gene: SCN5A

Linked Data

• gnomAD v3: 3-38551534-TGG-T
• gnomAD v4: 3-38551534-TGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551535_38551536del , CM000665.2:g.38551535_38551536del	GRCh38
NC_000003.11:g.38593026_38593027del , CM000665.1:g.38593026_38593027del	GRCh37
NC_000003.10:g.38568030_38568031del	NCBI36
NG_008934.1:g.103137_103138del , LRG_289:g.103137_103138del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4833_4834del	ENSP00000333674.7:p.Gln1612GlufsTer?
ENST00000333535.9:c.4836_4837del	ENSP00000328968.4:p.Gln1613GlufsTer?
ENST00000413689.6:c.4836_4837del MANE Plus Clinical	ENSP00000410257.1:p.Gln1613GlufsTer?
ENST00000423572.7:c.4833_4834del MANE Select	ENSP00000398266.2:p.Gln1612GlufsTer?
ENST00000333535.8:c.4836_4837del	ENSP00000328968.4:p.Gln1613GlufsTer?
ENST00000413689.5:c.4836_4837del	ENSP00000410257.1:p.Gln1613GlufsTer?
ENST00000414099.6:c.4782_4783del	ENSP00000398962.2:p.Gln1595GlufsTer?
ENST00000423572.6:c.4833_4834del	ENSP00000398266.2:p.Gln1612GlufsTer?
ENST00000425664.5:c.4782_4783del	ENSP00000416634.1:p.Gln1595GlufsTer?
ENST00000449557.6:c.4674_4675del	ENSP00000413996.2:p.Gln1559GlufsTer?
ENST00000450102.6:c.4674_4675del	ENSP00000403355.2:p.Gln1559GlufsTer?
ENST00000451551.6:c.4674_4675del	ENSP00000388797.2:p.Gln1559GlufsTer?
ENST00000455624.6:c.4737_4738del	ENSP00000399524.2:p.Gln1580GlufsTer?
NM_000335.4:c.4833_4834del , LRG_289t2:c.4833_4834del	NP_000326.2:p.Gln1612GlufsTer?
NM_001099404.1:c.4836_4837del , LRG_289t3:c.4836_4837del	NP_001092874.1:p.Gln1613GlufsTer?
NM_001099405.1:c.4782_4783del	NP_001092875.1:p.Gln1595GlufsTer?
NM_001160160.1:c.4737_4738del	NP_001153632.1:p.Gln1580GlufsTer?
NM_001160161.1:c.4674_4675del	NP_001153633.1:p.Gln1559GlufsTer?
NM_198056.2:c.4836_4837del , LRG_289t1:c.4836_4837del	NP_932173.1:p.Gln1613GlufsTer?
XM_006713282.2:c.4836_4837del	XP_006713345.1:p.Gln1613GlufsTer?
XM_011533991.1:c.4833_4834del	XP_011532293.1:p.Gln1612GlufsTer?
XM_011533992.1:c.4707_4708del	XP_011532294.1:p.Gln1570GlufsTer?
NM_001354701.1:c.4779_4780del	NP_001341630.1:p.Gln1594GlufsTer?
XM_011533991.2:c.4833_4834del	XP_011532293.1:p.Gln1612GlufsTer?
XM_017007017.1:c.4674_4675del	XP_016862506.1:p.Gln1559GlufsTer?
NM_000335.5:c.4833_4834del MANE Select	NP_000326.2:p.Gln1612GlufsTer?
NM_001160160.2:c.4737_4738del	NP_001153632.1:p.Gln1580GlufsTer?
NM_001354701.2:c.4779_4780del	NP_001341630.1:p.Gln1594GlufsTer?
NM_001099404.2:c.4836_4837del MANE Plus Clinical	NP_001092874.1:p.Gln1613GlufsTer?
NM_001099405.2:c.4782_4783del	NP_001092875.1:p.Gln1595GlufsTer?
NM_001160161.2:c.4674_4675del	NP_001153633.1:p.Gln1559GlufsTer?
NM_198056.3:c.4836_4837del	NP_932173.1:p.Gln1613GlufsTer?