Canonical Allele Identifier: CA2586965821

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551313_38551314insGCGGCC , CM000665.2:g.38551313_38551314insGCGGCC	GRCh38
NC_000003.11:g.38592804_38592805insGCGGCC , CM000665.1:g.38592804_38592805insGCGGCC	GRCh37
NC_000003.10:g.38567808_38567809insGCGGCC	NCBI36
NG_008934.1:g.103362_103363insCGCGGC , LRG_289:g.103362_103363insCGCGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5058_5059insCGCGGC	ENSP00000333674.7:p.Gly1686_Ile1687insArgGly
ENST00000333535.9:c.5061_5062insCGCGGC	ENSP00000328968.4:p.Gly1687_Ile1688insArgGly
ENST00000413689.6:c.5061_5062insCGCGGC MANE Plus Clinical	ENSP00000410257.1:p.Gly1687_Ile1688insArgGly
ENST00000423572.7:c.5058_5059insCGCGGC MANE Select	ENSP00000398266.2:p.Gly1686_Ile1687insArgGly
ENST00000333535.8:c.5061_5062insCGCGGC	ENSP00000328968.4:p.Gly1687_Ile1688insArgGly
ENST00000413689.5:c.5061_5062insCGCGGC	ENSP00000410257.1:p.Gly1687_Ile1688insArgGly
ENST00000414099.6:c.5007_5008insCGCGGC	ENSP00000398962.2:p.Gly1669_Ile1670insArgGly
ENST00000423572.6:c.5058_5059insCGCGGC	ENSP00000398266.2:p.Gly1686_Ile1687insArgGly
ENST00000425664.5:c.5007_5008insCGCGGC	ENSP00000416634.1:p.Gly1669_Ile1670insArgGly
ENST00000449557.6:c.4899_4900insCGCGGC	ENSP00000413996.2:p.Gly1633_Ile1634insArgGly
ENST00000450102.6:c.4899_4900insCGCGGC	ENSP00000403355.2:p.Gly1633_Ile1634insArgGly
ENST00000451551.6:c.4899_4900insCGCGGC	ENSP00000388797.2:p.Gly1633_Ile1634insArgGly
ENST00000455624.6:c.4962_4963insCGCGGC	ENSP00000399524.2:p.Gly1654_Ile1655insArgGly
NM_000335.4:c.5058_5059insCGCGGC , LRG_289t2:c.5058_5059insCGCGGC	NP_000326.2:p.Gly1686_Ile1687insArgGly
NM_001099404.1:c.5061_5062insCGCGGC , LRG_289t3:c.5061_5062insCGCGGC	NP_001092874.1:p.Gly1687_Ile1688insArgGly
NM_001099405.1:c.5007_5008insCGCGGC	NP_001092875.1:p.Gly1669_Ile1670insArgGly
NM_001160160.1:c.4962_4963insCGCGGC	NP_001153632.1:p.Gly1654_Ile1655insArgGly
NM_001160161.1:c.4899_4900insCGCGGC	NP_001153633.1:p.Gly1633_Ile1634insArgGly
NM_198056.2:c.5061_5062insCGCGGC , LRG_289t1:c.5061_5062insCGCGGC	NP_932173.1:p.Gly1687_Ile1688insArgGly
XM_006713282.2:c.5061_5062insCGCGGC	XP_006713345.1:p.Gly1687_Ile1688insArgGly
XM_011533991.1:c.5058_5059insCGCGGC	XP_011532293.1:p.Gly1686_Ile1687insArgGly
XM_011533992.1:c.4932_4933insCGCGGC	XP_011532294.1:p.Gly1644_Ile1645insArgGly
NM_001354701.1:c.5004_5005insCGCGGC	NP_001341630.1:p.Gly1668_Ile1669insArgGly
XM_011533991.2:c.5058_5059insCGCGGC	XP_011532293.1:p.Gly1686_Ile1687insArgGly
XM_017007017.1:c.4899_4900insCGCGGC	XP_016862506.1:p.Gly1633_Ile1634insArgGly
NM_000335.5:c.5058_5059insCGCGGC MANE Select	NP_000326.2:p.Gly1686_Ile1687insArgGly
NM_001160160.2:c.4962_4963insCGCGGC	NP_001153632.1:p.Gly1654_Ile1655insArgGly
NM_001354701.2:c.5004_5005insCGCGGC	NP_001341630.1:p.Gly1668_Ile1669insArgGly
NM_001099404.2:c.5061_5062insCGCGGC MANE Plus Clinical	NP_001092874.1:p.Gly1687_Ile1688insArgGly
NM_001099405.2:c.5007_5008insCGCGGC	NP_001092875.1:p.Gly1669_Ile1670insArgGly
NM_001160161.2:c.4899_4900insCGCGGC	NP_001153633.1:p.Gly1633_Ile1634insArgGly
NM_198056.3:c.5061_5062insCGCGGC	NP_932173.1:p.Gly1687_Ile1688insArgGly