Canonical Allele Identifier: CA1046987236

Gene: SCN5A

Linked Data

• gnomAD v3: 3-38551548-GAGCACA-G
• gnomAD v4: 3-38551548-GAGCACA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551549_38551554del , CM000665.2:g.38551549_38551554del	GRCh38
NC_000003.11:g.38593040_38593045del , CM000665.1:g.38593040_38593045del	GRCh37
NC_000003.10:g.38568044_38568049del	NCBI36
NG_008934.1:g.103119_103124del , LRG_289:g.103119_103124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4815_4820del	ENSP00000333674.7:p.Val1606_Leu1607del
ENST00000333535.9:c.4818_4823del	ENSP00000328968.4:p.Val1607_Leu1608del
ENST00000413689.6:c.4818_4823del MANE Plus Clinical	ENSP00000410257.1:p.Val1607_Leu1608del
ENST00000423572.7:c.4815_4820del MANE Select	ENSP00000398266.2:p.Val1606_Leu1607del
ENST00000333535.8:c.4818_4823del	ENSP00000328968.4:p.Val1607_Leu1608del
ENST00000413689.5:c.4818_4823del	ENSP00000410257.1:p.Val1607_Leu1608del
ENST00000414099.6:c.4764_4769del	ENSP00000398962.2:p.Val1589_Leu1590del
ENST00000423572.6:c.4815_4820del	ENSP00000398266.2:p.Val1606_Leu1607del
ENST00000425664.5:c.4764_4769del	ENSP00000416634.1:p.Val1589_Leu1590del
ENST00000449557.6:c.4656_4661del	ENSP00000413996.2:p.Val1553_Leu1554del
ENST00000450102.6:c.4656_4661del	ENSP00000403355.2:p.Val1553_Leu1554del
ENST00000451551.6:c.4656_4661del	ENSP00000388797.2:p.Val1553_Leu1554del
ENST00000455624.6:c.4719_4724del	ENSP00000399524.2:p.Val1574_Leu1575del
NM_000335.4:c.4815_4820del , LRG_289t2:c.4815_4820del	NP_000326.2:p.Val1606_Leu1607del
NM_001099404.1:c.4818_4823del , LRG_289t3:c.4818_4823del	NP_001092874.1:p.Val1607_Leu1608del
NM_001099405.1:c.4764_4769del	NP_001092875.1:p.Val1589_Leu1590del
NM_001160160.1:c.4719_4724del	NP_001153632.1:p.Val1574_Leu1575del
NM_001160161.1:c.4656_4661del	NP_001153633.1:p.Val1553_Leu1554del
NM_198056.2:c.4818_4823del , LRG_289t1:c.4818_4823del	NP_932173.1:p.Val1607_Leu1608del
XM_006713282.2:c.4818_4823del	XP_006713345.1:p.Val1607_Leu1608del
XM_011533991.1:c.4815_4820del	XP_011532293.1:p.Val1606_Leu1607del
XM_011533992.1:c.4689_4694del	XP_011532294.1:p.Val1564_Leu1565del
NM_001354701.1:c.4761_4766del	NP_001341630.1:p.Val1588_Leu1589del
XM_011533991.2:c.4815_4820del	XP_011532293.1:p.Val1606_Leu1607del
XM_017007017.1:c.4656_4661del	XP_016862506.1:p.Val1553_Leu1554del
NM_000335.5:c.4815_4820del MANE Select	NP_000326.2:p.Val1606_Leu1607del
NM_001160160.2:c.4719_4724del	NP_001153632.1:p.Val1574_Leu1575del
NM_001354701.2:c.4761_4766del	NP_001341630.1:p.Val1588_Leu1589del
NM_001099404.2:c.4818_4823del MANE Plus Clinical	NP_001092874.1:p.Val1607_Leu1608del
NM_001099405.2:c.4764_4769del	NP_001092875.1:p.Val1589_Leu1590del
NM_001160161.2:c.4656_4661del	NP_001153633.1:p.Val1553_Leu1554del
NM_198056.3:c.4818_4823del	NP_932173.1:p.Val1607_Leu1608del