Canonical Allele Identifier: CA2665106300

Gene: SCN5A

Linked Data

• gnomAD v4: 3-38550580-TGCTGAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550582_38550587del , CM000665.2:g.38550582_38550587del	GRCh38
NC_000003.11:g.38592073_38592078del , CM000665.1:g.38592073_38592078del	GRCh37
NC_000003.10:g.38567077_38567082del	NCBI36
NG_008934.1:g.104087_104092del , LRG_289:g.104087_104092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5783_5788del	ENSP00000333674.7:p.Arg1928_Gln1929del
ENST00000333535.9:c.5786_5791del	ENSP00000328968.4:p.Arg1929_Gln1930del
ENST00000413689.6:c.5786_5791del MANE Plus Clinical	ENSP00000410257.1:p.Arg1929_Gln1930del
ENST00000423572.7:c.5783_5788del MANE Select	ENSP00000398266.2:p.Arg1928_Gln1929del
ENST00000333535.8:c.5786_5791del	ENSP00000328968.4:p.Arg1929_Gln1930del
ENST00000413689.5:c.5786_5791del	ENSP00000410257.1:p.Arg1929_Gln1930del
ENST00000414099.6:c.5732_5737del	ENSP00000398962.2:p.Arg1911_Gln1912del
ENST00000423572.6:c.5783_5788del	ENSP00000398266.2:p.Arg1928_Gln1929del
ENST00000425664.5:c.5732_5737del	ENSP00000416634.1:p.Arg1911_Gln1912del
ENST00000449557.6:c.5624_5629del	ENSP00000413996.2:p.Arg1875_Gln1876del
ENST00000450102.6:c.5624_5629del	ENSP00000403355.2:p.Arg1875_Gln1876del
ENST00000451551.6:c.5624_5629del	ENSP00000388797.2:p.Arg1875_Gln1876del
ENST00000455624.6:c.5687_5692del	ENSP00000399524.2:p.Arg1896_Gln1897del
NM_000335.4:c.5783_5788del , LRG_289t2:c.5783_5788del	NP_000326.2:p.Arg1928_Gln1929del
NM_001099404.1:c.5786_5791del , LRG_289t3:c.5786_5791del	NP_001092874.1:p.Arg1929_Gln1930del
NM_001099405.1:c.5732_5737del	NP_001092875.1:p.Arg1911_Gln1912del
NM_001160160.1:c.5687_5692del	NP_001153632.1:p.Arg1896_Gln1897del
NM_001160161.1:c.5624_5629del	NP_001153633.1:p.Arg1875_Gln1876del
NM_198056.2:c.5786_5791del , LRG_289t1:c.5786_5791del	NP_932173.1:p.Arg1929_Gln1930del
XM_006713282.2:c.5786_5791del	XP_006713345.1:p.Arg1929_Gln1930del
XM_011533991.1:c.5783_5788del	XP_011532293.1:p.Arg1928_Gln1929del
XM_011533992.1:c.5657_5662del	XP_011532294.1:p.Arg1886_Gln1887del
NM_001354701.1:c.5729_5734del	NP_001341630.1:p.Arg1910_Gln1911del
XM_011533991.2:c.5783_5788del	XP_011532293.1:p.Arg1928_Gln1929del
XM_017007017.1:c.5624_5629del	XP_016862506.1:p.Arg1875_Gln1876del
NM_000335.5:c.5783_5788del MANE Select	NP_000326.2:p.Arg1928_Gln1929del
NM_001160160.2:c.5687_5692del	NP_001153632.1:p.Arg1896_Gln1897del
NM_001354701.2:c.5729_5734del	NP_001341630.1:p.Arg1910_Gln1911del
NM_001099404.2:c.5786_5791del MANE Plus Clinical	NP_001092874.1:p.Arg1929_Gln1930del
NM_001099405.2:c.5732_5737del	NP_001092875.1:p.Arg1911_Gln1912del
NM_001160161.2:c.5624_5629del	NP_001153633.1:p.Arg1875_Gln1876del
NM_198056.3:c.5786_5791del	NP_932173.1:p.Arg1929_Gln1930del