Canonical Allele Identifier: CA2839544123

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550850_38550851insACCT , CM000665.2:g.38550850_38550851insACCT	GRCh38
NC_000003.11:g.38592341_38592342insACCT , CM000665.1:g.38592341_38592342insACCT	GRCh37
NC_000003.10:g.38567345_38567346insACCT	NCBI36
NG_008934.1:g.103822_103823insAGGT , LRG_289:g.103822_103823insAGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.5518_5519insAGGT	ENSP00000333674.7:p.Pro1840GlnfsTer?
ENST00000333535.9:c.5521_5522insAGGT	ENSP00000328968.4:p.Pro1841GlnfsTer?
ENST00000413689.6:c.5521_5522insAGGT MANE Plus Clinical	ENSP00000410257.1:p.Pro1841GlnfsTer?
ENST00000423572.7:c.5518_5519insAGGT MANE Select	ENSP00000398266.2:p.Pro1840GlnfsTer?
ENST00000333535.8:c.5521_5522insAGGT	ENSP00000328968.4:p.Pro1841GlnfsTer?
ENST00000413689.5:c.5521_5522insAGGT	ENSP00000410257.1:p.Pro1841GlnfsTer?
ENST00000414099.6:c.5467_5468insAGGT	ENSP00000398962.2:p.Pro1823GlnfsTer?
ENST00000423572.6:c.5518_5519insAGGT	ENSP00000398266.2:p.Pro1840GlnfsTer?
ENST00000425664.5:c.5467_5468insAGGT	ENSP00000416634.1:p.Pro1823GlnfsTer?
ENST00000449557.6:c.5359_5360insAGGT	ENSP00000413996.2:p.Pro1787GlnfsTer?
ENST00000450102.6:c.5359_5360insAGGT	ENSP00000403355.2:p.Pro1787GlnfsTer?
ENST00000451551.6:c.5359_5360insAGGT	ENSP00000388797.2:p.Pro1787GlnfsTer?
ENST00000455624.6:c.5422_5423insAGGT	ENSP00000399524.2:p.Pro1808GlnfsTer?
NM_000335.4:c.5518_5519insAGGT , LRG_289t2:c.5518_5519insAGGT	NP_000326.2:p.Pro1840GlnfsTer?
NM_001099404.1:c.5521_5522insAGGT , LRG_289t3:c.5521_5522insAGGT	NP_001092874.1:p.Pro1841GlnfsTer?
NM_001099405.1:c.5467_5468insAGGT	NP_001092875.1:p.Pro1823GlnfsTer?
NM_001160160.1:c.5422_5423insAGGT	NP_001153632.1:p.Pro1808GlnfsTer?
NM_001160161.1:c.5359_5360insAGGT	NP_001153633.1:p.Pro1787GlnfsTer?
NM_198056.2:c.5521_5522insAGGT , LRG_289t1:c.5521_5522insAGGT	NP_932173.1:p.Pro1841GlnfsTer?
XM_006713282.2:c.5521_5522insAGGT	XP_006713345.1:p.Pro1841GlnfsTer?
XM_011533991.1:c.5518_5519insAGGT	XP_011532293.1:p.Pro1840GlnfsTer?
XM_011533992.1:c.5392_5393insAGGT	XP_011532294.1:p.Pro1798GlnfsTer?
NM_001354701.1:c.5464_5465insAGGT	NP_001341630.1:p.Pro1822GlnfsTer?
XM_011533991.2:c.5518_5519insAGGT	XP_011532293.1:p.Pro1840GlnfsTer?
XM_017007017.1:c.5359_5360insAGGT	XP_016862506.1:p.Pro1787GlnfsTer?
NM_000335.5:c.5518_5519insAGGT MANE Select	NP_000326.2:p.Pro1840GlnfsTer?
NM_001160160.2:c.5422_5423insAGGT	NP_001153632.1:p.Pro1808GlnfsTer?
NM_001354701.2:c.5464_5465insAGGT	NP_001341630.1:p.Pro1822GlnfsTer?
NM_001099404.2:c.5521_5522insAGGT MANE Plus Clinical	NP_001092874.1:p.Pro1841GlnfsTer?
NM_001099405.2:c.5467_5468insAGGT	NP_001092875.1:p.Pro1823GlnfsTer?
NM_001160161.2:c.5359_5360insAGGT	NP_001153633.1:p.Pro1787GlnfsTer?
NM_198056.3:c.5521_5522insAGGT	NP_932173.1:p.Pro1841GlnfsTer?