Canonical Allele Identifier: CA2665112174

Gene: SCN5A

Linked Data

• gnomAD v4: 3-38575344-A-ATTCATGGGTCAGACTGGCCCATGGCTCACCAGGCCG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38575344_38575345insTTCATGGGTCAGACTGGCCCATGGCTCACCAGGCCG , CM000665.2:g.38575344_38575345insTTCATGGGTCAGACTGGCCCATGGCTCACCAGGCCG	GRCh38
NC_000003.11:g.38616835_38616836insTTCATGGGTCAGACTGGCCCATGGCTCACCAGGCCG , CM000665.1:g.38616835_38616836insTTCATGGGTCAGACTGGCCCATGGCTCACCAGGCCG	GRCh37
NC_000003.10:g.38591839_38591840insTTCATGGGTCAGACTGGCCCATGGCTCACCAGGCCG	NCBI36
NG_008934.1:g.79328_79329insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA , LRG_289:g.79328_79329insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	ENSP00000333674.7:p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSe...
ENST00000333535.9:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	ENSP00000328968.4:p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSe...
ENST00000413689.6:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA MANE Plus Clinical	ENSP00000410257.1:p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSe...
ENST00000423572.7:c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA MANE Select	ENSP00000398266.2:p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSe...
ENST00000333535.8:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	ENSP00000328968.4:p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSe...
ENST00000413689.5:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	ENSP00000410257.1:p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSe...
ENST00000414099.6:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	ENSP00000398962.2:p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSe...
ENST00000423572.6:c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	ENSP00000398266.2:p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSe...
ENST00000425664.5:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	ENSP00000416634.1:p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSe...
ENST00000449557.6:c.3456_3457insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	ENSP00000413996.2:p.Trp1152_Phe1153insArgProGlyGluProTrpAlaSe...
ENST00000450102.6:c.3456_3457insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	ENSP00000403355.2:p.Trp1152_Phe1153insArgProGlyGluProTrpAlaSe...
ENST00000451551.6:c.3456_3457insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	ENSP00000388797.2:p.Trp1152_Phe1153insArgProGlyGluProTrpAlaSe...
ENST00000455624.6:c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	ENSP00000399524.2:p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSe...
NM_000335.4:c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA , LRG_289t2:c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	NP_000326.2:p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSerLeuTh...
NM_001099404.1:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA , LRG_289t3:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	NP_001092874.1:p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSerLe...
NM_001099405.1:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	NP_001092875.1:p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSerLe...
NM_001160160.1:c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	NP_001153632.1:p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSerLe...
NM_001160161.1:c.3456_3457insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	NP_001153633.1:p.Trp1152_Phe1153insArgProGlyGluProTrpAlaSerLe...
NM_198056.2:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA , LRG_289t1:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	NP_932173.1:p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSerLeuTh...
XM_006713282.2:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	XP_006713345.1:p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSerLe...
XM_011533991.1:c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	XP_011532293.1:p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSerLe...
XM_011533992.1:c.3489_3490insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	XP_011532294.1:p.Trp1163_Phe1164insArgProGlyGluProTrpAlaSerLe...
NM_001354701.1:c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	NP_001341630.1:p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSerLe...
XM_011533991.2:c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	XP_011532293.1:p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSerLe...
XM_017007017.1:c.3456_3457insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	XP_016862506.1:p.Trp1152_Phe1153insArgProGlyGluProTrpAlaSerLe...
NM_000335.5:c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA MANE Select	NP_000326.2:p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSerLeuTh...
NM_001160160.2:c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	NP_001153632.1:p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSerLe...
NM_001354701.2:c.3615_3616insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	NP_001341630.1:p.Trp1205_Phe1206insArgProGlyGluProTrpAlaSerLe...
NM_001099404.2:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA MANE Plus Clinical	NP_001092874.1:p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSerLe...
NM_001099405.2:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	NP_001092875.1:p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSerLe...
NM_001160161.2:c.3456_3457insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	NP_001153633.1:p.Trp1152_Phe1153insArgProGlyGluProTrpAlaSerLe...
NM_198056.3:c.3618_3619insCGGCCTGGTGAGCCATGGGCCAGTCTGACCCATGAA	NP_932173.1:p.Trp1206_Phe1207insArgProGlyGluProTrpAlaSerLeuTh...