Canonical Allele Identifier: CA1358557086

Gene: SCN5A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38550990_38550991delinsGA , CM000665.2:g.38550990_38550991delinsGA	GRCh38
NC_000003.11:g.38592481_38592482delinsGA , CM000665.1:g.38592481_38592482delinsGA	GRCh37
NC_000003.10:g.38567485_38567486delinsGA	NCBI36
NG_008934.1:g.103682_103683delinsTC , LRG_289:g.103682_103683delinsTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.5378_5379delinsTC	ENSP00000333674.7:p.Phe1793=
ENST00000333535.9:c.5381_5382delinsTC	ENSP00000328968.4:p.Phe1794=
ENST00000413689.6:c.5381_5382delinsTC MANE Plus Clinical	ENSP00000410257.1:p.Phe1794=
ENST00000423572.7:c.5378_5379delinsTC MANE Select	ENSP00000398266.2:p.Phe1793=
ENST00000333535.8:c.5381_5382delinsTC	ENSP00000328968.4:p.Phe1794=
ENST00000413689.5:c.5381_5382delinsTC	ENSP00000410257.1:p.Phe1794=
ENST00000414099.6:c.5327_5328delinsTC	ENSP00000398962.2:p.Phe1776=
ENST00000423572.6:c.5378_5379delinsTC	ENSP00000398266.2:p.Phe1793=
ENST00000425664.5:c.5327_5328delinsTC	ENSP00000416634.1:p.Phe1776=
ENST00000449557.6:c.5219_5220delinsTC	ENSP00000413996.2:p.Phe1740=
ENST00000450102.6:c.5219_5220delinsTC	ENSP00000403355.2:p.Phe1740=
ENST00000451551.6:c.5219_5220delinsTC	ENSP00000388797.2:p.Phe1740=
ENST00000455624.6:c.5282_5283delinsTC	ENSP00000399524.2:p.Phe1761=
NM_000335.4:c.5378_5379delinsTC , LRG_289t2:c.5378_5379delinsTC	NP_000326.2:p.Phe1793=
NM_001099404.1:c.5381_5382delinsTC , LRG_289t3:c.5381_5382delinsTC	NP_001092874.1:p.Phe1794=
NM_001099405.1:c.5327_5328delinsTC	NP_001092875.1:p.Phe1776=
NM_001160160.1:c.5282_5283delinsTC	NP_001153632.1:p.Phe1761=
NM_001160161.1:c.5219_5220delinsTC	NP_001153633.1:p.Phe1740=
NM_198056.2:c.5381_5382delinsTC , LRG_289t1:c.5381_5382delinsTC	NP_932173.1:p.Phe1794=
XM_006713282.2:c.5381_5382delinsTC	XP_006713345.1:p.Phe1794=
XM_011533991.1:c.5378_5379delinsTC	XP_011532293.1:p.Phe1793=
XM_011533992.1:c.5252_5253delinsTC	XP_011532294.1:p.Phe1751=
NM_001354701.1:c.5324_5325delinsTC	NP_001341630.1:p.Phe1775=
XM_011533991.2:c.5378_5379delinsTC	XP_011532293.1:p.Phe1793=
XM_017007017.1:c.5219_5220delinsTC	XP_016862506.1:p.Phe1740=
NM_000335.5:c.5378_5379delinsTC MANE Select	NP_000326.2:p.Phe1793=
NM_001160160.2:c.5282_5283delinsTC	NP_001153632.1:p.Phe1761=
NM_001354701.2:c.5324_5325delinsTC	NP_001341630.1:p.Phe1775=
NM_001099404.2:c.5381_5382delinsTC MANE Plus Clinical	NP_001092874.1:p.Phe1794=
NM_001099405.2:c.5327_5328delinsTC	NP_001092875.1:p.Phe1776=
NM_001160161.2:c.5219_5220delinsTC	NP_001153633.1:p.Phe1740=
NM_198056.3:c.5381_5382delinsTC	NP_932173.1:p.Phe1794=