Canonical Allele Identifier: CA1046987024

Gene: SCN5A

Linked Data

• gnomAD v3: 3-38551529-ACTT-A
• gnomAD v4: 3-38551529-ACTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551532_38551534del , CM000665.2:g.38551532_38551534del	GRCh38
NC_000003.11:g.38593023_38593025del , CM000665.1:g.38593023_38593025del	GRCh37
NC_000003.10:g.38568027_38568029del	NCBI36
NG_008934.1:g.103141_103143del , LRG_289:g.103141_103143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4837_4839del	ENSP00000333674.7:p.Lys1613del
ENST00000333535.9:c.4840_4842del	ENSP00000328968.4:p.Lys1614del
ENST00000413689.6:c.4840_4842del MANE Plus Clinical	ENSP00000410257.1:p.Lys1614del
ENST00000423572.7:c.4837_4839del MANE Select	ENSP00000398266.2:p.Lys1613del
ENST00000333535.8:c.4840_4842del	ENSP00000328968.4:p.Lys1614del
ENST00000413689.5:c.4840_4842del	ENSP00000410257.1:p.Lys1614del
ENST00000414099.6:c.4786_4788del	ENSP00000398962.2:p.Lys1596del
ENST00000423572.6:c.4837_4839del	ENSP00000398266.2:p.Lys1613del
ENST00000425664.5:c.4786_4788del	ENSP00000416634.1:p.Lys1596del
ENST00000449557.6:c.4678_4680del	ENSP00000413996.2:p.Lys1560del
ENST00000450102.6:c.4678_4680del	ENSP00000403355.2:p.Lys1560del
ENST00000451551.6:c.4678_4680del	ENSP00000388797.2:p.Lys1560del
ENST00000455624.6:c.4741_4743del	ENSP00000399524.2:p.Lys1581del
NM_000335.4:c.4837_4839del , LRG_289t2:c.4837_4839del	NP_000326.2:p.Lys1613del
NM_001099404.1:c.4840_4842del , LRG_289t3:c.4840_4842del	NP_001092874.1:p.Lys1614del
NM_001099405.1:c.4786_4788del	NP_001092875.1:p.Lys1596del
NM_001160160.1:c.4741_4743del	NP_001153632.1:p.Lys1581del
NM_001160161.1:c.4678_4680del	NP_001153633.1:p.Lys1560del
NM_198056.2:c.4840_4842del , LRG_289t1:c.4840_4842del	NP_932173.1:p.Lys1614del
XM_006713282.2:c.4840_4842del	XP_006713345.1:p.Lys1614del
XM_011533991.1:c.4837_4839del	XP_011532293.1:p.Lys1613del
XM_011533992.1:c.4711_4713del	XP_011532294.1:p.Lys1571del
NM_001354701.1:c.4783_4785del	NP_001341630.1:p.Lys1595del
XM_011533991.2:c.4837_4839del	XP_011532293.1:p.Lys1613del
XM_017007017.1:c.4678_4680del	XP_016862506.1:p.Lys1560del
NM_000335.5:c.4837_4839del MANE Select	NP_000326.2:p.Lys1613del
NM_001160160.2:c.4741_4743del	NP_001153632.1:p.Lys1581del
NM_001354701.2:c.4783_4785del	NP_001341630.1:p.Lys1595del
NM_001099404.2:c.4840_4842del MANE Plus Clinical	NP_001092874.1:p.Lys1614del
NM_001099405.2:c.4786_4788del	NP_001092875.1:p.Lys1596del
NM_001160161.2:c.4678_4680del	NP_001153633.1:p.Lys1560del
NM_198056.3:c.4840_4842del	NP_932173.1:p.Lys1614del