Canonical Allele Identifier: CA2523370385

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551538_38551539insCGC , CM000665.2:g.38551538_38551539insCGC	GRCh38
NC_000003.11:g.38593029_38593030insCGC , CM000665.1:g.38593029_38593030insCGC	GRCh37
NC_000003.10:g.38568033_38568034insCGC	NCBI36
NG_008934.1:g.103134_103135insGCG , LRG_289:g.103134_103135insGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4830_4831insGCG	ENSP00000333674.7:p.Ile1610_Ile1611insAla
ENST00000333535.9:c.4833_4834insGCG	ENSP00000328968.4:p.Ile1611_Ile1612insAla
ENST00000413689.6:c.4833_4834insGCG MANE Plus Clinical	ENSP00000410257.1:p.Ile1611_Ile1612insAla
ENST00000423572.7:c.4830_4831insGCG MANE Select	ENSP00000398266.2:p.Ile1610_Ile1611insAla
ENST00000333535.8:c.4833_4834insGCG	ENSP00000328968.4:p.Ile1611_Ile1612insAla
ENST00000413689.5:c.4833_4834insGCG	ENSP00000410257.1:p.Ile1611_Ile1612insAla
ENST00000414099.6:c.4779_4780insGCG	ENSP00000398962.2:p.Ile1593_Ile1594insAla
ENST00000423572.6:c.4830_4831insGCG	ENSP00000398266.2:p.Ile1610_Ile1611insAla
ENST00000425664.5:c.4779_4780insGCG	ENSP00000416634.1:p.Ile1593_Ile1594insAla
ENST00000449557.6:c.4671_4672insGCG	ENSP00000413996.2:p.Ile1557_Ile1558insAla
ENST00000450102.6:c.4671_4672insGCG	ENSP00000403355.2:p.Ile1557_Ile1558insAla
ENST00000451551.6:c.4671_4672insGCG	ENSP00000388797.2:p.Ile1557_Ile1558insAla
ENST00000455624.6:c.4734_4735insGCG	ENSP00000399524.2:p.Ile1578_Ile1579insAla
NM_000335.4:c.4830_4831insGCG , LRG_289t2:c.4830_4831insGCG	NP_000326.2:p.Ile1610_Ile1611insAla
NM_001099404.1:c.4833_4834insGCG , LRG_289t3:c.4833_4834insGCG	NP_001092874.1:p.Ile1611_Ile1612insAla
NM_001099405.1:c.4779_4780insGCG	NP_001092875.1:p.Ile1593_Ile1594insAla
NM_001160160.1:c.4734_4735insGCG	NP_001153632.1:p.Ile1578_Ile1579insAla
NM_001160161.1:c.4671_4672insGCG	NP_001153633.1:p.Ile1557_Ile1558insAla
NM_198056.2:c.4833_4834insGCG , LRG_289t1:c.4833_4834insGCG	NP_932173.1:p.Ile1611_Ile1612insAla
XM_006713282.2:c.4833_4834insGCG	XP_006713345.1:p.Ile1611_Ile1612insAla
XM_011533991.1:c.4830_4831insGCG	XP_011532293.1:p.Ile1610_Ile1611insAla
XM_011533992.1:c.4704_4705insGCG	XP_011532294.1:p.Ile1568_Ile1569insAla
NM_001354701.1:c.4776_4777insGCG	NP_001341630.1:p.Ile1592_Ile1593insAla
XM_011533991.2:c.4830_4831insGCG	XP_011532293.1:p.Ile1610_Ile1611insAla
XM_017007017.1:c.4671_4672insGCG	XP_016862506.1:p.Ile1557_Ile1558insAla
NM_000335.5:c.4830_4831insGCG MANE Select	NP_000326.2:p.Ile1610_Ile1611insAla
NM_001160160.2:c.4734_4735insGCG	NP_001153632.1:p.Ile1578_Ile1579insAla
NM_001354701.2:c.4776_4777insGCG	NP_001341630.1:p.Ile1592_Ile1593insAla
NM_001099404.2:c.4833_4834insGCG MANE Plus Clinical	NP_001092874.1:p.Ile1611_Ile1612insAla
NM_001099405.2:c.4779_4780insGCG	NP_001092875.1:p.Ile1593_Ile1594insAla
NM_001160161.2:c.4671_4672insGCG	NP_001153633.1:p.Ile1557_Ile1558insAla
NM_198056.3:c.4833_4834insGCG	NP_932173.1:p.Ile1611_Ile1612insAla