Canonical Allele Identifier: CA2665106248

Gene: SCN5A

Linked Data

• gnomAD v4: 3-38550390-GTCAGACCCCCGCACCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550391_38550406del , CM000665.2:g.38550391_38550406del	GRCh38
NC_000003.11:g.38591882_38591897del , CM000665.1:g.38591882_38591897del	GRCh37
NC_000003.10:g.38566886_38566901del	NCBI36
NG_008934.1:g.104267_104282del , LRG_289:g.104267_104282del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.5963_5978del	ENSP00000333674.7:p.Gln1988ProfsTer?
ENST00000333535.9:c.5966_5981del	ENSP00000328968.4:p.Gln1989ProfsTer?
ENST00000413689.6:c.5966_5981del MANE Plus Clinical	ENSP00000410257.1:p.Gln1989ProfsTer?
ENST00000423572.7:c.5963_5978del MANE Select	ENSP00000398266.2:p.Gln1988ProfsTer?
ENST00000333535.8:c.5966_5981del	ENSP00000328968.4:p.Gln1989ProfsTer?
ENST00000413689.5:c.5966_5981del	ENSP00000410257.1:p.Gln1989ProfsTer?
ENST00000414099.6:c.5912_5927del	ENSP00000398962.2:p.Gln1971ProfsTer?
ENST00000423572.6:c.5963_5978del	ENSP00000398266.2:p.Gln1988ProfsTer?
ENST00000425664.5:c.5912_5927del	ENSP00000416634.1:p.Gln1971ProfsTer?
ENST00000449557.6:c.5804_5819del	ENSP00000413996.2:p.Gln1935ProfsTer?
ENST00000450102.6:c.5804_5819del	ENSP00000403355.2:p.Gln1935ProfsTer?
ENST00000451551.6:c.5804_5819del	ENSP00000388797.2:p.Gln1935ProfsTer?
ENST00000455624.6:c.5867_5882del	ENSP00000399524.2:p.Gln1956ProfsTer?
NM_000335.4:c.5963_5978del , LRG_289t2:c.5963_5978del	NP_000326.2:p.Gln1988ProfsTer?
NM_001099404.1:c.5966_5981del , LRG_289t3:c.5966_5981del	NP_001092874.1:p.Gln1989ProfsTer?
NM_001099405.1:c.5912_5927del	NP_001092875.1:p.Gln1971ProfsTer?
NM_001160160.1:c.5867_5882del	NP_001153632.1:p.Gln1956ProfsTer?
NM_001160161.1:c.5804_5819del	NP_001153633.1:p.Gln1935ProfsTer?
NM_198056.2:c.5966_5981del , LRG_289t1:c.5966_5981del	NP_932173.1:p.Gln1989ProfsTer?
XM_006713282.2:c.5966_5981del	XP_006713345.1:p.Gln1989ProfsTer?
XM_011533991.1:c.5963_5978del	XP_011532293.1:p.Gln1988ProfsTer?
XM_011533992.1:c.5837_5852del	XP_011532294.1:p.Gln1946ProfsTer?
NM_001354701.1:c.5909_5924del	NP_001341630.1:p.Gln1970ProfsTer?
XM_011533991.2:c.5963_5978del	XP_011532293.1:p.Gln1988ProfsTer?
XM_017007017.1:c.5804_5819del	XP_016862506.1:p.Gln1935ProfsTer?
NM_000335.5:c.5963_5978del MANE Select	NP_000326.2:p.Gln1988ProfsTer?
NM_001160160.2:c.5867_5882del	NP_001153632.1:p.Gln1956ProfsTer?
NM_001354701.2:c.5909_5924del	NP_001341630.1:p.Gln1970ProfsTer?
NM_001099404.2:c.5966_5981del MANE Plus Clinical	NP_001092874.1:p.Gln1989ProfsTer?
NM_001099405.2:c.5912_5927del	NP_001092875.1:p.Gln1971ProfsTer?
NM_001160161.2:c.5804_5819del	NP_001153633.1:p.Gln1935ProfsTer?
NM_198056.3:c.5966_5981del	NP_932173.1:p.Gln1989ProfsTer?