Canonical Allele Identifier: CA1358573011

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38576352_38576353delinsCG , CM000665.2:g.38576352_38576353delinsCG	GRCh38
NC_000003.11:g.38617843_38617844delinsCG , CM000665.1:g.38617843_38617844delinsCG	GRCh37
NC_000003.10:g.38592847_38592848delinsCG	NCBI36
NG_008934.1:g.78320_78321delinsCG , LRG_289:g.78320_78321delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.3508+308_3508+309delinsCG	ENSP00000333674.7:n.3508+308_3508+309delinsCG
ENST00000333535.9:c.3511+308_3511+309delinsCG	ENSP00000328968.4:n.3511+308_3511+309delinsCG
ENST00000413689.6:c.3511+308_3511+309delinsCG MANE Plus Clinical	ENSP00000410257.1:n.3511+308_3511+309delinsCG
ENST00000423572.7:c.3508+308_3508+309delinsCG MANE Select	ENSP00000398266.2:n.3508+308_3508+309delinsCG
ENST00000333535.8:c.3511+308_3511+309delinsCG	ENSP00000328968.4:n.3511+308_3511+309delinsCG
ENST00000413689.5:c.3511+308_3511+309delinsCG	ENSP00000410257.1:n.3511+308_3511+309delinsCG
ENST00000414099.6:c.3511+308_3511+309delinsCG	ENSP00000398962.2:n.3511+308_3511+309delinsCG
ENST00000423572.6:c.3508+308_3508+309delinsCG	ENSP00000398266.2:n.3508+308_3508+309delinsCG
ENST00000425664.5:c.3511+308_3511+309delinsCG	ENSP00000416634.1:n.3511+308_3511+309delinsCG
ENST00000449557.6:c.3349+308_3349+309delinsCG	ENSP00000413996.2:n.3349+308_3349+309delinsCG
ENST00000450102.6:c.3349+308_3349+309delinsCG	ENSP00000403355.2:n.3349+308_3349+309delinsCG
ENST00000451551.6:c.3349+308_3349+309delinsCG	ENSP00000388797.2:n.3349+308_3349+309delinsCG
ENST00000455624.6:c.3508+308_3508+309delinsCG	ENSP00000399524.2:n.3508+308_3508+309delinsCG
NM_000335.4:c.3508+308_3508+309delinsCG , LRG_289t2:c.3508+308_3508+309delinsCG	NP_000326.2:n.3508+308_3508+309delinsCG
NM_001099404.1:c.3511+308_3511+309delinsCG , LRG_289t3:c.3511+308_3511+309delinsCG	NP_001092874.1:n.3511+308_3511+309delinsCG
NM_001099405.1:c.3511+308_3511+309delinsCG	NP_001092875.1:n.3511+308_3511+309delinsCG
NM_001160160.1:c.3508+308_3508+309delinsCG	NP_001153632.1:n.3508+308_3508+309delinsCG
NM_001160161.1:c.3349+308_3349+309delinsCG	NP_001153633.1:n.3349+308_3349+309delinsCG
NM_198056.2:c.3511+308_3511+309delinsCG , LRG_289t1:c.3511+308_3511+309delinsCG	NP_932173.1:n.3511+308_3511+309delinsCG
XM_006713282.2:c.3511+308_3511+309delinsCG	XP_006713345.1:n.3511+308_3511+309delinsCG
XM_011533991.1:c.3508+308_3508+309delinsCG	XP_011532293.1:n.3508+308_3508+309delinsCG
XM_011533992.1:c.3382+308_3382+309delinsCG	XP_011532294.1:n.3382+308_3382+309delinsCG
NM_001354701.1:c.3508+308_3508+309delinsCG	NP_001341630.1:n.3508+308_3508+309delinsCG
XM_011533991.2:c.3508+308_3508+309delinsCG	XP_011532293.1:n.3508+308_3508+309delinsCG
XM_017007017.1:c.3349+308_3349+309delinsCG	XP_016862506.1:n.3349+308_3349+309delinsCG
NM_000335.5:c.3508+308_3508+309delinsCG MANE Select	NP_000326.2:n.3508+308_3508+309delinsCG
NM_001160160.2:c.3508+308_3508+309delinsCG	NP_001153632.1:n.3508+308_3508+309delinsCG
NM_001354701.2:c.3508+308_3508+309delinsCG	NP_001341630.1:n.3508+308_3508+309delinsCG
NM_001099404.2:c.3511+308_3511+309delinsCG MANE Plus Clinical	NP_001092874.1:n.3511+308_3511+309delinsCG
NM_001099405.2:c.3511+308_3511+309delinsCG	NP_001092875.1:n.3511+308_3511+309delinsCG
NM_001160161.2:c.3349+308_3349+309delinsCG	NP_001153633.1:n.3349+308_3349+309delinsCG
NM_198056.3:c.3511+308_3511+309delinsCG	NP_932173.1:n.3511+308_3511+309delinsCG