Canonical Allele Identifier: CA1358565764

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38560396_38560397delinsCG , CM000665.2:g.38560396_38560397delinsCG	GRCh38
NC_000003.11:g.38601887_38601888delinsCG , CM000665.1:g.38601887_38601888delinsCG	GRCh37
NC_000003.10:g.38576891_38576892delinsCG	NCBI36
NG_008934.1:g.94276_94277delinsCG , LRG_289:g.94276_94277delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.3992_3993delinsCG	ENSP00000333674.7:p.Pro1331=
ENST00000333535.9:c.3995_3996delinsCG	ENSP00000328968.4:p.Pro1332=
ENST00000413689.6:c.3995_3996delinsCG MANE Plus Clinical	ENSP00000410257.1:p.Pro1332=
ENST00000423572.7:c.3992_3993delinsCG MANE Select	ENSP00000398266.2:p.Pro1331=
ENST00000333535.8:c.3995_3996delinsCG	ENSP00000328968.4:p.Pro1332=
ENST00000413689.5:c.3995_3996delinsCG	ENSP00000410257.1:p.Pro1332=
ENST00000414099.6:c.3995_3996delinsCG	ENSP00000398962.2:p.Pro1332=
ENST00000423572.6:c.3992_3993delinsCG	ENSP00000398266.2:p.Pro1331=
ENST00000425664.5:c.3995_3996delinsCG	ENSP00000416634.1:p.Pro1332=
ENST00000449557.6:c.3833_3834delinsCG	ENSP00000413996.2:p.Pro1278=
ENST00000450102.6:c.3833_3834delinsCG	ENSP00000403355.2:p.Pro1278=
ENST00000451551.6:c.3833_3834delinsCG	ENSP00000388797.2:p.Pro1278=
ENST00000455624.6:c.3992_3993delinsCG	ENSP00000399524.2:p.Pro1331=
NM_000335.4:c.3992_3993delinsCG , LRG_289t2:c.3992_3993delinsCG	NP_000326.2:p.Pro1331=
NM_001099404.1:c.3995_3996delinsCG , LRG_289t3:c.3995_3996delinsCG	NP_001092874.1:p.Pro1332=
NM_001099405.1:c.3995_3996delinsCG	NP_001092875.1:p.Pro1332=
NM_001160160.1:c.3992_3993delinsCG	NP_001153632.1:p.Pro1331=
NM_001160161.1:c.3833_3834delinsCG	NP_001153633.1:p.Pro1278=
NM_198056.2:c.3995_3996delinsCG , LRG_289t1:c.3995_3996delinsCG	NP_932173.1:p.Pro1332=
XM_006713282.2:c.3995_3996delinsCG	XP_006713345.1:p.Pro1332=
XM_011533991.1:c.3992_3993delinsCG	XP_011532293.1:p.Pro1331=
XM_011533992.1:c.3866_3867delinsCG	XP_011532294.1:p.Pro1289=
NM_001354701.1:c.3992_3993delinsCG	NP_001341630.1:p.Pro1331=
XM_011533991.2:c.3992_3993delinsCG	XP_011532293.1:p.Pro1331=
XM_017007017.1:c.3833_3834delinsCG	XP_016862506.1:p.Pro1278=
NM_000335.5:c.3992_3993delinsCG MANE Select	NP_000326.2:p.Pro1331=
NM_001160160.2:c.3992_3993delinsCG	NP_001153632.1:p.Pro1331=
NM_001354701.2:c.3992_3993delinsCG	NP_001341630.1:p.Pro1331=
NM_001099404.2:c.3995_3996delinsCG MANE Plus Clinical	NP_001092874.1:p.Pro1332=
NM_001099405.2:c.3995_3996delinsCG	NP_001092875.1:p.Pro1332=
NM_001160161.2:c.3833_3834delinsCG	NP_001153633.1:p.Pro1278=
NM_198056.3:c.3995_3996delinsCG	NP_932173.1:p.Pro1332=