Canonical Allele Identifier: CA1046986978

Gene: SCN5A

Linked Data

• gnomAD v3: 3-38551527-GTACTTC-G
• gnomAD v4: 3-38551527-GTACTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551529_38551534del , CM000665.2:g.38551529_38551534del	GRCh38
NC_000003.11:g.38593020_38593025del , CM000665.1:g.38593020_38593025del	GRCh37
NC_000003.10:g.38568024_38568029del	NCBI36
NG_008934.1:g.103140_103145del , LRG_289:g.103140_103145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.4836_4841del	ENSP00000333674.7:p.Gln1612_Tyr1614delinsHis
ENST00000333535.9:c.4839_4844del	ENSP00000328968.4:p.Gln1613_Tyr1615delinsHis
ENST00000413689.6:c.4839_4844del MANE Plus Clinical	ENSP00000410257.1:p.Gln1613_Tyr1615delinsHis
ENST00000423572.7:c.4836_4841del MANE Select	ENSP00000398266.2:p.Gln1612_Tyr1614delinsHis
ENST00000333535.8:c.4839_4844del	ENSP00000328968.4:p.Gln1613_Tyr1615delinsHis
ENST00000413689.5:c.4839_4844del	ENSP00000410257.1:p.Gln1613_Tyr1615delinsHis
ENST00000414099.6:c.4785_4790del	ENSP00000398962.2:p.Gln1595_Tyr1597delinsHis
ENST00000423572.6:c.4836_4841del	ENSP00000398266.2:p.Gln1612_Tyr1614delinsHis
ENST00000425664.5:c.4785_4790del	ENSP00000416634.1:p.Gln1595_Tyr1597delinsHis
ENST00000449557.6:c.4677_4682del	ENSP00000413996.2:p.Gln1559_Tyr1561delinsHis
ENST00000450102.6:c.4677_4682del	ENSP00000403355.2:p.Gln1559_Tyr1561delinsHis
ENST00000451551.6:c.4677_4682del	ENSP00000388797.2:p.Gln1559_Tyr1561delinsHis
ENST00000455624.6:c.4740_4745del	ENSP00000399524.2:p.Gln1580_Tyr1582delinsHis
NM_000335.4:c.4836_4841del , LRG_289t2:c.4836_4841del	NP_000326.2:p.Gln1612_Tyr1614delinsHis
NM_001099404.1:c.4839_4844del , LRG_289t3:c.4839_4844del	NP_001092874.1:p.Gln1613_Tyr1615delinsHis
NM_001099405.1:c.4785_4790del	NP_001092875.1:p.Gln1595_Tyr1597delinsHis
NM_001160160.1:c.4740_4745del	NP_001153632.1:p.Gln1580_Tyr1582delinsHis
NM_001160161.1:c.4677_4682del	NP_001153633.1:p.Gln1559_Tyr1561delinsHis
NM_198056.2:c.4839_4844del , LRG_289t1:c.4839_4844del	NP_932173.1:p.Gln1613_Tyr1615delinsHis
XM_006713282.2:c.4839_4844del	XP_006713345.1:p.Gln1613_Tyr1615delinsHis
XM_011533991.1:c.4836_4841del	XP_011532293.1:p.Gln1612_Tyr1614delinsHis
XM_011533992.1:c.4710_4715del	XP_011532294.1:p.Gln1570_Tyr1572delinsHis
NM_001354701.1:c.4782_4787del	NP_001341630.1:p.Gln1594_Tyr1596delinsHis
XM_011533991.2:c.4836_4841del	XP_011532293.1:p.Gln1612_Tyr1614delinsHis
XM_017007017.1:c.4677_4682del	XP_016862506.1:p.Gln1559_Tyr1561delinsHis
NM_000335.5:c.4836_4841del MANE Select	NP_000326.2:p.Gln1612_Tyr1614delinsHis
NM_001160160.2:c.4740_4745del	NP_001153632.1:p.Gln1580_Tyr1582delinsHis
NM_001354701.2:c.4782_4787del	NP_001341630.1:p.Gln1594_Tyr1596delinsHis
NM_001099404.2:c.4839_4844del MANE Plus Clinical	NP_001092874.1:p.Gln1613_Tyr1615delinsHis
NM_001099405.2:c.4785_4790del	NP_001092875.1:p.Gln1595_Tyr1597delinsHis
NM_001160161.2:c.4677_4682del	NP_001153633.1:p.Gln1559_Tyr1561delinsHis
NM_198056.3:c.4839_4844del	NP_932173.1:p.Gln1613_Tyr1615delinsHis