Canonical Allele Identifier: CA2665118125

Gene: SCN5A

Linked Data

• gnomAD v4: 3-38633118-G-GCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38633119_38633120insCTC , CM000665.2:g.38633119_38633120insCTC	GRCh38
NC_000003.11:g.38674610_38674611insCTC , CM000665.1:g.38674610_38674611insCTC	GRCh37
NC_000003.10:g.38649614_38649615insCTC	NCBI36
NG_008934.1:g.21554_21555insAGG , LRG_289:g.21554_21555insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.189_190insAGG	ENSP00000333674.7:p.Lys63_Leu64insArg
ENST00000333535.9:c.189_190insAGG	ENSP00000328968.4:p.Lys63_Leu64insArg
ENST00000413689.6:c.189_190insAGG MANE Plus Clinical	ENSP00000410257.1:p.Lys63_Leu64insArg
ENST00000423572.7:c.189_190insAGG MANE Select	ENSP00000398266.2:p.Lys63_Leu64insArg
ENST00000327956.6:c.189_190insAGG	ENSP00000333674.6:p.Lys63_Leu64insArg
ENST00000333535.8:c.189_190insAGG	ENSP00000328968.4:p.Lys63_Leu64insArg
ENST00000413689.5:c.189_190insAGG	ENSP00000410257.1:p.Lys63_Leu64insArg
ENST00000414099.6:c.189_190insAGG	ENSP00000398962.2:p.Lys63_Leu64insArg
ENST00000423572.6:c.189_190insAGG	ENSP00000398266.2:p.Lys63_Leu64insArg
ENST00000425664.5:c.189_190insAGG	ENSP00000416634.1:p.Lys63_Leu64insArg
ENST00000449557.6:c.189_190insAGG	ENSP00000413996.2:p.Lys63_Leu64insArg
ENST00000450102.6:c.189_190insAGG	ENSP00000403355.2:p.Lys63_Leu64insArg
ENST00000451551.6:c.189_190insAGG	ENSP00000388797.2:p.Lys63_Leu64insArg
ENST00000455624.6:c.189_190insAGG	ENSP00000399524.2:p.Lys63_Leu64insArg
ENST00000476683.1:n.102_103insAGG
ENST00000491944.1:n.384_385insAGG
ENST00000612060.1:c.189_190insAGG	ENSP00000479016.1:p.Lys63_Leu64insArg
NM_000335.4:c.189_190insAGG , LRG_289t2:c.189_190insAGG	NP_000326.2:p.Lys63_Leu64insArg
NM_001099404.1:c.189_190insAGG , LRG_289t3:c.189_190insAGG	NP_001092874.1:p.Lys63_Leu64insArg
NM_001099405.1:c.189_190insAGG	NP_001092875.1:p.Lys63_Leu64insArg
NM_001160160.1:c.189_190insAGG	NP_001153632.1:p.Lys63_Leu64insArg
NM_001160161.1:c.189_190insAGG	NP_001153633.1:p.Lys63_Leu64insArg
NM_198056.2:c.189_190insAGG , LRG_289t1:c.189_190insAGG	NP_932173.1:p.Lys63_Leu64insArg
XM_006713282.2:c.189_190insAGG	XP_006713345.1:p.Lys63_Leu64insArg
XM_011533991.1:c.189_190insAGG	XP_011532293.1:p.Lys63_Leu64insArg
XM_011533992.1:c.189_190insAGG	XP_011532294.1:p.Lys63_Leu64insArg
NM_001354701.1:c.189_190insAGG	NP_001341630.1:p.Lys63_Leu64insArg
XM_011533991.2:c.189_190insAGG	XP_011532293.1:p.Lys63_Leu64insArg
XM_017007017.1:c.189_190insAGG	XP_016862506.1:p.Lys63_Leu64insArg
NM_000335.5:c.189_190insAGG MANE Select	NP_000326.2:p.Lys63_Leu64insArg
NM_001160160.2:c.189_190insAGG	NP_001153632.1:p.Lys63_Leu64insArg
NM_001354701.2:c.189_190insAGG	NP_001341630.1:p.Lys63_Leu64insArg
NM_001099404.2:c.189_190insAGG MANE Plus Clinical	NP_001092874.1:p.Lys63_Leu64insArg
NM_001099405.2:c.189_190insAGG	NP_001092875.1:p.Lys63_Leu64insArg
NM_001160161.2:c.189_190insAGG	NP_001153633.1:p.Lys63_Leu64insArg
NM_198056.3:c.189_190insAGG	NP_932173.1:p.Lys63_Leu64insArg