Canonical Allele Identifier: CA1358556786

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550877_38550878delinsTG , CM000665.2:g.38550877_38550878delinsTG	GRCh38
NC_000003.11:g.38592368_38592369delinsTG , CM000665.1:g.38592368_38592369delinsTG	GRCh37
NC_000003.10:g.38567372_38567373delinsTG	NCBI36
NG_008934.1:g.103795_103796delinsCA , LRG_289:g.103795_103796delinsCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.5491_5492delinsCA	ENSP00000333674.7:p.Gln1831=
ENST00000333535.9:c.5494_5495delinsCA	ENSP00000328968.4:p.Gln1832=
ENST00000413689.6:c.5494_5495delinsCA MANE Plus Clinical	ENSP00000410257.1:p.Gln1832=
ENST00000423572.7:c.5491_5492delinsCA MANE Select	ENSP00000398266.2:p.Gln1831=
ENST00000333535.8:c.5494_5495delinsCA	ENSP00000328968.4:p.Gln1832=
ENST00000413689.5:c.5494_5495delinsCA	ENSP00000410257.1:p.Gln1832=
ENST00000414099.6:c.5440_5441delinsCA	ENSP00000398962.2:p.Gln1814=
ENST00000423572.6:c.5491_5492delinsCA	ENSP00000398266.2:p.Gln1831=
ENST00000425664.5:c.5440_5441delinsCA	ENSP00000416634.1:p.Gln1814=
ENST00000449557.6:c.5332_5333delinsCA	ENSP00000413996.2:p.Gln1778=
ENST00000450102.6:c.5332_5333delinsCA	ENSP00000403355.2:p.Gln1778=
ENST00000451551.6:c.5332_5333delinsCA	ENSP00000388797.2:p.Gln1778=
ENST00000455624.6:c.5395_5396delinsCA	ENSP00000399524.2:p.Gln1799=
NM_000335.4:c.5491_5492delinsCA , LRG_289t2:c.5491_5492delinsCA	NP_000326.2:p.Gln1831=
NM_001099404.1:c.5494_5495delinsCA , LRG_289t3:c.5494_5495delinsCA	NP_001092874.1:p.Gln1832=
NM_001099405.1:c.5440_5441delinsCA	NP_001092875.1:p.Gln1814=
NM_001160160.1:c.5395_5396delinsCA	NP_001153632.1:p.Gln1799=
NM_001160161.1:c.5332_5333delinsCA	NP_001153633.1:p.Gln1778=
NM_198056.2:c.5494_5495delinsCA , LRG_289t1:c.5494_5495delinsCA	NP_932173.1:p.Gln1832=
XM_006713282.2:c.5494_5495delinsCA	XP_006713345.1:p.Gln1832=
XM_011533991.1:c.5491_5492delinsCA	XP_011532293.1:p.Gln1831=
XM_011533992.1:c.5365_5366delinsCA	XP_011532294.1:p.Gln1789=
NM_001354701.1:c.5437_5438delinsCA	NP_001341630.1:p.Gln1813=
XM_011533991.2:c.5491_5492delinsCA	XP_011532293.1:p.Gln1831=
XM_017007017.1:c.5332_5333delinsCA	XP_016862506.1:p.Gln1778=
NM_000335.5:c.5491_5492delinsCA MANE Select	NP_000326.2:p.Gln1831=
NM_001160160.2:c.5395_5396delinsCA	NP_001153632.1:p.Gln1799=
NM_001354701.2:c.5437_5438delinsCA	NP_001341630.1:p.Gln1813=
NM_001099404.2:c.5494_5495delinsCA MANE Plus Clinical	NP_001092874.1:p.Gln1832=
NM_001099405.2:c.5440_5441delinsCA	NP_001092875.1:p.Gln1814=
NM_001160161.2:c.5332_5333delinsCA	NP_001153633.1:p.Gln1778=
NM_198056.3:c.5494_5495delinsCA	NP_932173.1:p.Gln1832=