Canonical Allele Identifier: CA1047006611

Gene: SCN5A

Linked Data

• gnomAD v3: 3-38548441-TCCAAGCC-T
• gnomAD v4: 3-38548441-TCCAAGCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38548442_38548448del , CM000665.2:g.38548442_38548448del	GRCh38
NC_000003.11:g.38589933_38589939del , CM000665.1:g.38589933_38589939del	GRCh37
NC_000003.10:g.38564937_38564943del	NCBI36
NG_008934.1:g.106225_106231del , LRG_289:g.106225_106231del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.*1873_*1879del	ENSP00000333674.7:n.*1873_*1879del
ENST00000333535.9:c.*1873_*1879del	ENSP00000328968.4:n.*1873_*1879del
ENST00000413689.6:c.*1873_*1879del MANE Plus Clinical	ENSP00000410257.1:n.*1873_*1879del
ENST00000423572.7:c.*1873_*1879del MANE Select	ENSP00000398266.2:n.*1873_*1879del
ENST00000333535.8:c.*1873_*1879del	ENSP00000328968.4:n.*1873_*1879del
ENST00000413689.5:c.*1873_*1879del	ENSP00000410257.1:n.*1873_*1879del
ENST00000414099.6:c.*1873_*1879del	ENSP00000398962.2:n.*1873_*1879del
ENST00000423572.6:c.*1873_*1879del	ENSP00000398266.2:n.*1873_*1879del
ENST00000425664.5:c.*1873_*1879del	ENSP00000416634.1:n.*1873_*1879del
ENST00000451551.6:c.*1873_*1879del	ENSP00000388797.2:n.*1873_*1879del
NM_000335.4:c.*1873_*1879del , LRG_289t2:c.*1873_*1879del	NP_000326.2:n.*1873_*1879del
NM_001099404.1:c.*1873_*1879del , LRG_289t3:c.*1873_*1879del	NP_001092874.1:n.*1873_*1879del
NM_001099405.1:c.*1873_*1879del	NP_001092875.1:n.*1873_*1879del
NM_001160160.1:c.*1873_*1879del	NP_001153632.1:n.*1873_*1879del
NM_001160161.1:c.*1873_*1879del	NP_001153633.1:n.*1873_*1879del
NM_198056.2:c.*1873_*1879del , LRG_289t1:c.*1873_*1879del	NP_932173.1:n.*1873_*1879del
XM_006713282.2:c.*1873_*1879del	XP_006713345.1:n.*1873_*1879del
XM_011533991.1:c.*1873_*1879del	XP_011532293.1:n.*1873_*1879del
XM_011533992.1:c.*1873_*1879del	XP_011532294.1:n.*1873_*1879del
NM_001354701.1:c.*1873_*1879del	NP_001341630.1:n.*1873_*1879del
XM_011533991.2:c.*1873_*1879del	XP_011532293.1:n.*1873_*1879del
XM_017007017.1:c.*1873_*1879del	XP_016862506.1:n.*1873_*1879del
NM_000335.5:c.*1873_*1879del MANE Select	NP_000326.2:n.*1873_*1879del
NM_001160160.2:c.*1873_*1879del	NP_001153632.1:n.*1873_*1879del
NM_001354701.2:c.*1873_*1879del	NP_001341630.1:n.*1873_*1879del
NM_001099404.2:c.*1873_*1879del MANE Plus Clinical	NP_001092874.1:n.*1873_*1879del
NM_001099405.2:c.*1873_*1879del	NP_001092875.1:n.*1873_*1879del
NM_001160161.2:c.*1873_*1879del	NP_001153633.1:n.*1873_*1879del
NM_198056.3:c.*1873_*1879del	NP_932173.1:n.*1873_*1879del