Canonical Allele Identifier: CA2665111066

Gene: SCN5A

Linked Data

• gnomAD v4: 3-38556648-G-GTAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38556648_38556649insTAAAAAA , CM000665.2:g.38556648_38556649insTAAAAAA	GRCh38
NC_000003.11:g.38598139_38598140insTAAAAAA , CM000665.1:g.38598139_38598140insTAAAAAA	GRCh37
NC_000003.10:g.38573143_38573144insTAAAAAA	NCBI36
NG_008934.1:g.98024_98025insTTTTTTA , LRG_289:g.98024_98025insTTTTTTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4297-71_4297-70insTTTTTTA	ENSP00000333674.7:n.4297-71_4297-70insTTTTTTA
ENST00000333535.9:c.4300-71_4300-70insTTTTTTA	ENSP00000328968.4:n.4300-71_4300-70insTTTTTTA
ENST00000413689.6:c.4300-71_4300-70insTTTTTTA MANE Plus Clinical	ENSP00000410257.1:n.4300-71_4300-70insTTTTTTA
ENST00000423572.7:c.4297-71_4297-70insTTTTTTA MANE Select	ENSP00000398266.2:n.4297-71_4297-70insTTTTTTA
ENST00000333535.8:c.4300-71_4300-70insTTTTTTA	ENSP00000328968.4:n.4300-71_4300-70insTTTTTTA
ENST00000413689.5:c.4300-71_4300-70insTTTTTTA	ENSP00000410257.1:n.4300-71_4300-70insTTTTTTA
ENST00000414099.6:c.4246-71_4246-70insTTTTTTA	ENSP00000398962.2:n.4246-71_4246-70insTTTTTTA
ENST00000423572.6:c.4297-71_4297-70insTTTTTTA	ENSP00000398266.2:n.4297-71_4297-70insTTTTTTA
ENST00000425664.5:c.4246-71_4246-70insTTTTTTA	ENSP00000416634.1:n.4246-71_4246-70insTTTTTTA
ENST00000449557.6:c.4138-71_4138-70insTTTTTTA	ENSP00000413996.2:n.4138-71_4138-70insTTTTTTA
ENST00000450102.6:c.4138-71_4138-70insTTTTTTA	ENSP00000403355.2:n.4138-71_4138-70insTTTTTTA
ENST00000451551.6:c.4138-71_4138-70insTTTTTTA	ENSP00000388797.2:n.4138-71_4138-70insTTTTTTA
ENST00000455624.6:c.4297-71_4297-70insTTTTTTA	ENSP00000399524.2:n.4297-71_4297-70insTTTTTTA
NM_000335.4:c.4297-71_4297-70insTTTTTTA , LRG_289t2:c.4297-71_4297-70insTTTTTTA	NP_000326.2:n.4297-71_4297-70insTTTTTTA
NM_001099404.1:c.4300-71_4300-70insTTTTTTA , LRG_289t3:c.4300-71_4300-70insTTTTTTA	NP_001092874.1:n.4300-71_4300-70insTTTTTTA
NM_001099405.1:c.4246-71_4246-70insTTTTTTA	NP_001092875.1:n.4246-71_4246-70insTTTTTTA
NM_001160160.1:c.4297-71_4297-70insTTTTTTA	NP_001153632.1:n.4297-71_4297-70insTTTTTTA
NM_001160161.1:c.4138-71_4138-70insTTTTTTA	NP_001153633.1:n.4138-71_4138-70insTTTTTTA
NM_198056.2:c.4300-71_4300-70insTTTTTTA , LRG_289t1:c.4300-71_4300-70insTTTTTTA	NP_932173.1:n.4300-71_4300-70insTTTTTTA
XM_006713282.2:c.4300-71_4300-70insTTTTTTA	XP_006713345.1:n.4300-71_4300-70insTTTTTTA
XM_011533991.1:c.4297-71_4297-70insTTTTTTA	XP_011532293.1:n.4297-71_4297-70insTTTTTTA
XM_011533992.1:c.4171-71_4171-70insTTTTTTA	XP_011532294.1:n.4171-71_4171-70insTTTTTTA
NM_001354701.1:c.4243-71_4243-70insTTTTTTA	NP_001341630.1:n.4243-71_4243-70insTTTTTTA
XM_011533991.2:c.4297-71_4297-70insTTTTTTA	XP_011532293.1:n.4297-71_4297-70insTTTTTTA
XM_017007017.1:c.4138-71_4138-70insTTTTTTA	XP_016862506.1:n.4138-71_4138-70insTTTTTTA
NM_000335.5:c.4297-71_4297-70insTTTTTTA MANE Select	NP_000326.2:n.4297-71_4297-70insTTTTTTA
NM_001160160.2:c.4297-71_4297-70insTTTTTTA	NP_001153632.1:n.4297-71_4297-70insTTTTTTA
NM_001354701.2:c.4243-71_4243-70insTTTTTTA	NP_001341630.1:n.4243-71_4243-70insTTTTTTA
NM_001099404.2:c.4300-71_4300-70insTTTTTTA MANE Plus Clinical	NP_001092874.1:n.4300-71_4300-70insTTTTTTA
NM_001099405.2:c.4246-71_4246-70insTTTTTTA	NP_001092875.1:n.4246-71_4246-70insTTTTTTA
NM_001160161.2:c.4138-71_4138-70insTTTTTTA	NP_001153633.1:n.4138-71_4138-70insTTTTTTA
NM_198056.3:c.4300-71_4300-70insTTTTTTA	NP_932173.1:n.4300-71_4300-70insTTTTTTA