Canonical Allele Identifier: CA2573052151

Gene: SCN5A

Linked Data

• ClinVar Variation Id: 1303003
• ClinVar RCV Id: RCV001756502
• dbSNP Id: rs2125826562
• gnomAD v4: 3-38551292-AGTTGAACAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38551295_38551303del , CM000665.2:g.38551295_38551303del	GRCh38
NC_000003.11:g.38592786_38592794del , CM000665.1:g.38592786_38592794del	GRCh37
NC_000003.10:g.38567790_38567798del	NCBI36
NG_008934.1:g.103372_103380del , LRG_289:g.103372_103380del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.5068_5076del	ENSP00000333674.7:p.Met1690_Asn1692del
ENST00000333535.9:c.5071_5079del	ENSP00000328968.4:p.Met1691_Asn1693del
ENST00000413689.6:c.5071_5079del MANE Plus Clinical	ENSP00000410257.1:p.Met1691_Asn1693del
ENST00000423572.7:c.5068_5076del MANE Select	ENSP00000398266.2:p.Met1690_Asn1692del
ENST00000333535.8:c.5071_5079del	ENSP00000328968.4:p.Met1691_Asn1693del
ENST00000413689.5:c.5071_5079del	ENSP00000410257.1:p.Met1691_Asn1693del
ENST00000414099.6:c.5017_5025del	ENSP00000398962.2:p.Met1673_Asn1675del
ENST00000423572.6:c.5068_5076del	ENSP00000398266.2:p.Met1690_Asn1692del
ENST00000425664.5:c.5017_5025del	ENSP00000416634.1:p.Met1673_Asn1675del
ENST00000449557.6:c.4909_4917del	ENSP00000413996.2:p.Met1637_Asn1639del
ENST00000450102.6:c.4909_4917del	ENSP00000403355.2:p.Met1637_Asn1639del
ENST00000451551.6:c.4909_4917del	ENSP00000388797.2:p.Met1637_Asn1639del
ENST00000455624.6:c.4972_4980del	ENSP00000399524.2:p.Met1658_Asn1660del
NM_000335.4:c.5068_5076del , LRG_289t2:c.5068_5076del	NP_000326.2:p.Met1690_Asn1692del
NM_001099404.1:c.5071_5079del , LRG_289t3:c.5071_5079del	NP_001092874.1:p.Met1691_Asn1693del
NM_001099405.1:c.5017_5025del	NP_001092875.1:p.Met1673_Asn1675del
NM_001160160.1:c.4972_4980del	NP_001153632.1:p.Met1658_Asn1660del
NM_001160161.1:c.4909_4917del	NP_001153633.1:p.Met1637_Asn1639del
NM_198056.2:c.5071_5079del , LRG_289t1:c.5071_5079del	NP_932173.1:p.Met1691_Asn1693del
XM_006713282.2:c.5071_5079del	XP_006713345.1:p.Met1691_Asn1693del
XM_011533991.1:c.5068_5076del	XP_011532293.1:p.Met1690_Asn1692del
XM_011533992.1:c.4942_4950del	XP_011532294.1:p.Met1648_Asn1650del
NM_001354701.1:c.5014_5022del	NP_001341630.1:p.Met1672_Asn1674del
XM_011533991.2:c.5068_5076del	XP_011532293.1:p.Met1690_Asn1692del
XM_017007017.1:c.4909_4917del	XP_016862506.1:p.Met1637_Asn1639del
NM_000335.5:c.5068_5076del MANE Select	NP_000326.2:p.Met1690_Asn1692del
NM_001160160.2:c.4972_4980del	NP_001153632.1:p.Met1658_Asn1660del
NM_001354701.2:c.5014_5022del	NP_001341630.1:p.Met1672_Asn1674del
NM_001099404.2:c.5071_5079del MANE Plus Clinical	NP_001092874.1:p.Met1691_Asn1693del
NM_001099405.2:c.5017_5025del	NP_001092875.1:p.Met1673_Asn1675del
NM_001160161.2:c.4909_4917del	NP_001153633.1:p.Met1637_Asn1639del
NM_198056.3:c.5071_5079del	NP_932173.1:p.Met1691_Asn1693del