Canonical Allele Identifier: CA2665113418

Gene: SCN5A

Linked Data

• gnomAD v4: 3-38585662-G-GGTGTTTGTGTGTGTGTGTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38585666_38585667insTTGTGTGTGTGTGTGTGTGT , CM000665.2:g.38585666_38585667insTTGTGTGTGTGTGTGTGTGT	GRCh38
NC_000003.11:g.38627157_38627158insTTGTGTGTGTGTGTGTGTGT , CM000665.1:g.38627157_38627158insTTGTGTGTGTGTGTGTGTGT	GRCh37
NC_000003.10:g.38602161_38602162insTTGTGTGTGTGTGTGTGTGT	NCBI36
NG_008934.1:g.69010_69011insACACACACACACACAAACAC , LRG_289:g.69010_69011insACACACACACACACAAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327956.7:c.2787+28_2787+29insACACACACACACACAAACAC	ENSP00000333674.7:n.2787+28_2787+29insACACACACACACACAAACAC
ENST00000333535.9:c.2787+28_2787+29insACACACACACACACAAACAC	ENSP00000328968.4:n.2787+28_2787+29insACACACACACACACAAACAC
ENST00000413689.6:c.2787+28_2787+29insACACACACACACACAAACAC MANE Plus Clinical	ENSP00000410257.1:n.2787+28_2787+29insACACACACACACACAAACAC
ENST00000423572.7:c.2787+28_2787+29insACACACACACACACAAACAC MANE Select	ENSP00000398266.2:n.2787+28_2787+29insACACACACACACACAAACAC
ENST00000333535.8:c.2787+28_2787+29insACACACACACACACAAACAC	ENSP00000328968.4:n.2787+28_2787+29insACACACACACACACAAACAC
ENST00000413689.5:c.2787+28_2787+29insACACACACACACACAAACAC	ENSP00000410257.1:n.2787+28_2787+29insACACACACACACACAAACAC
ENST00000414099.6:c.2787+28_2787+29insACACACACACACACAAACAC	ENSP00000398962.2:n.2787+28_2787+29insACACACACACACACAAACAC
ENST00000423572.6:c.2787+28_2787+29insACACACACACACACAAACAC	ENSP00000398266.2:n.2787+28_2787+29insACACACACACACACAAACAC
ENST00000425664.5:c.2787+28_2787+29insACACACACACACACAAACAC	ENSP00000416634.1:n.2787+28_2787+29insACACACACACACACAAACAC
ENST00000449557.6:c.2787+28_2787+29insACACACACACACACAAACAC	ENSP00000413996.2:n.2787+28_2787+29insACACACACACACACAAACAC
ENST00000450102.6:c.2787+28_2787+29insACACACACACACACAAACAC	ENSP00000403355.2:n.2787+28_2787+29insACACACACACACACAAACAC
ENST00000451551.6:c.2787+28_2787+29insACACACACACACACAAACAC	ENSP00000388797.2:n.2787+28_2787+29insACACACACACACACAAACAC
ENST00000455624.6:c.2787+28_2787+29insACACACACACACACAAACAC	ENSP00000399524.2:n.2787+28_2787+29insACACACACACACACAAACAC
NM_000335.4:c.2787+28_2787+29insACACACACACACACAAACAC , LRG_289t2:c.2787+28_2787+29insACACACACACACACAAACAC	NP_000326.2:n.2787+28_2787+29insACACACACACACACAAACAC
NM_001099404.1:c.2787+28_2787+29insACACACACACACACAAACAC , LRG_289t3:c.2787+28_2787+29insACACACACACACACAAACAC	NP_001092874.1:n.2787+28_2787+29insACACACACACACACAAACAC
NM_001099405.1:c.2787+28_2787+29insACACACACACACACAAACAC	NP_001092875.1:n.2787+28_2787+29insACACACACACACACAAACAC
NM_001160160.1:c.2787+28_2787+29insACACACACACACACAAACAC	NP_001153632.1:n.2787+28_2787+29insACACACACACACACAAACAC
NM_001160161.1:c.2787+28_2787+29insACACACACACACACAAACAC	NP_001153633.1:n.2787+28_2787+29insACACACACACACACAAACAC
NM_198056.2:c.2787+28_2787+29insACACACACACACACAAACAC , LRG_289t1:c.2787+28_2787+29insACACACACACACACAAACAC	NP_932173.1:n.2787+28_2787+29insACACACACACACACAAACAC
XM_006713282.2:c.2787+28_2787+29insACACACACACACACAAACAC	XP_006713345.1:n.2787+28_2787+29insACACACACACACACAAACAC
XM_011533991.1:c.2787+28_2787+29insACACACACACACACAAACAC	XP_011532293.1:n.2787+28_2787+29insACACACACACACACAAACAC
XM_011533992.1:c.2658+28_2658+29insACACACACACACACAAACAC	XP_011532294.1:n.2658+28_2658+29insACACACACACACACAAACAC
NM_001354701.1:c.2787+28_2787+29insACACACACACACACAAACAC	NP_001341630.1:n.2787+28_2787+29insACACACACACACACAAACAC
XM_011533991.2:c.2787+28_2787+29insACACACACACACACAAACAC	XP_011532293.1:n.2787+28_2787+29insACACACACACACACAAACAC
XM_017007017.1:c.2787+28_2787+29insACACACACACACACAAACAC	XP_016862506.1:n.2787+28_2787+29insACACACACACACACAAACAC
NM_000335.5:c.2787+28_2787+29insACACACACACACACAAACAC MANE Select	NP_000326.2:n.2787+28_2787+29insACACACACACACACAAACAC
NM_001160160.2:c.2787+28_2787+29insACACACACACACACAAACAC	NP_001153632.1:n.2787+28_2787+29insACACACACACACACAAACAC
NM_001354701.2:c.2787+28_2787+29insACACACACACACACAAACAC	NP_001341630.1:n.2787+28_2787+29insACACACACACACACAAACAC
NM_001099404.2:c.2787+28_2787+29insACACACACACACACAAACAC MANE Plus Clinical	NP_001092874.1:n.2787+28_2787+29insACACACACACACACAAACAC
NM_001099405.2:c.2787+28_2787+29insACACACACACACACAAACAC	NP_001092875.1:n.2787+28_2787+29insACACACACACACACAAACAC
NM_001160161.2:c.2787+28_2787+29insACACACACACACACAAACAC	NP_001153633.1:n.2787+28_2787+29insACACACACACACACAAACAC
NM_198056.3:c.2787+28_2787+29insACACACACACACACAAACAC	NP_932173.1:n.2787+28_2787+29insACACACACACACACAAACAC