Canonical Allele Identifier: CA1046987173

Gene: SCN5A

Linked Data

• gnomAD v3: 3-38551543-TCCG-T
• gnomAD v4: 3-38551543-TCCG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551544_38551546del , CM000665.2:g.38551544_38551546del	GRCh38
NC_000003.11:g.38593035_38593037del , CM000665.1:g.38593035_38593037del	GRCh37
NC_000003.10:g.38568039_38568041del	NCBI36
NG_008934.1:g.103127_103129del , LRG_289:g.103127_103129del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4823_4825del	ENSP00000333674.7:p.Ser1608_Asp1609delinsTyr
ENST00000333535.9:c.4826_4828del	ENSP00000328968.4:p.Ser1609_Asp1610delinsTyr
ENST00000413689.6:c.4826_4828del MANE Plus Clinical	ENSP00000410257.1:p.Ser1609_Asp1610delinsTyr
ENST00000423572.7:c.4823_4825del MANE Select	ENSP00000398266.2:p.Ser1608_Asp1609delinsTyr
ENST00000333535.8:c.4826_4828del	ENSP00000328968.4:p.Ser1609_Asp1610delinsTyr
ENST00000413689.5:c.4826_4828del	ENSP00000410257.1:p.Ser1609_Asp1610delinsTyr
ENST00000414099.6:c.4772_4774del	ENSP00000398962.2:p.Ser1591_Asp1592delinsTyr
ENST00000423572.6:c.4823_4825del	ENSP00000398266.2:p.Ser1608_Asp1609delinsTyr
ENST00000425664.5:c.4772_4774del	ENSP00000416634.1:p.Ser1591_Asp1592delinsTyr
ENST00000449557.6:c.4664_4666del	ENSP00000413996.2:p.Ser1555_Asp1556delinsTyr
ENST00000450102.6:c.4664_4666del	ENSP00000403355.2:p.Ser1555_Asp1556delinsTyr
ENST00000451551.6:c.4664_4666del	ENSP00000388797.2:p.Ser1555_Asp1556delinsTyr
ENST00000455624.6:c.4727_4729del	ENSP00000399524.2:p.Ser1576_Asp1577delinsTyr
NM_000335.4:c.4823_4825del , LRG_289t2:c.4823_4825del	NP_000326.2:p.Ser1608_Asp1609delinsTyr
NM_001099404.1:c.4826_4828del , LRG_289t3:c.4826_4828del	NP_001092874.1:p.Ser1609_Asp1610delinsTyr
NM_001099405.1:c.4772_4774del	NP_001092875.1:p.Ser1591_Asp1592delinsTyr
NM_001160160.1:c.4727_4729del	NP_001153632.1:p.Ser1576_Asp1577delinsTyr
NM_001160161.1:c.4664_4666del	NP_001153633.1:p.Ser1555_Asp1556delinsTyr
NM_198056.2:c.4826_4828del , LRG_289t1:c.4826_4828del	NP_932173.1:p.Ser1609_Asp1610delinsTyr
XM_006713282.2:c.4826_4828del	XP_006713345.1:p.Ser1609_Asp1610delinsTyr
XM_011533991.1:c.4823_4825del	XP_011532293.1:p.Ser1608_Asp1609delinsTyr
XM_011533992.1:c.4697_4699del	XP_011532294.1:p.Ser1566_Asp1567delinsTyr
NM_001354701.1:c.4769_4771del	NP_001341630.1:p.Ser1590_Asp1591delinsTyr
XM_011533991.2:c.4823_4825del	XP_011532293.1:p.Ser1608_Asp1609delinsTyr
XM_017007017.1:c.4664_4666del	XP_016862506.1:p.Ser1555_Asp1556delinsTyr
NM_000335.5:c.4823_4825del MANE Select	NP_000326.2:p.Ser1608_Asp1609delinsTyr
NM_001160160.2:c.4727_4729del	NP_001153632.1:p.Ser1576_Asp1577delinsTyr
NM_001354701.2:c.4769_4771del	NP_001341630.1:p.Ser1590_Asp1591delinsTyr
NM_001099404.2:c.4826_4828del MANE Plus Clinical	NP_001092874.1:p.Ser1609_Asp1610delinsTyr
NM_001099405.2:c.4772_4774del	NP_001092875.1:p.Ser1591_Asp1592delinsTyr
NM_001160161.2:c.4664_4666del	NP_001153633.1:p.Ser1555_Asp1556delinsTyr
NM_198056.3:c.4826_4828del	NP_932173.1:p.Ser1609_Asp1610delinsTyr