Canonical Allele Identifier: CA1047003605

Gene: SCN5A

Linked Data

• dbSNP Id: rs2061567627
• gnomAD v3: 3-38580910-CATGCAGGGGTGAGGGCCCACCTGCTTGCTGGACTCCTCCTCCGTGCCCAGGCTGTTCTCCTCATCTTCTTCTTGGTCATCTGTGTCT-C
• gnomAD v4: 3-38580910-CATGCAGGGGTGAGGGCCCACCTGCTTGCTGGACTCCTCCTCCGTGCCCAGGCTGTTCTCCTCATCTTCTTCTTGGTCATCTGTGTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.38580911_38580997del , CM000665.2:g.38580911_38580997del	GRCh38
NC_000003.11:g.38622402_38622488del , CM000665.1:g.38622402_38622488del	GRCh37
NC_000003.10:g.38597406_38597492del	NCBI36
NG_008934.1:g.73676_73762del , LRG_289:g.73676_73762del

Transcript Alleles

HGVS	Amino-acid change
ENST00000327956.7:c.3162_3228+20del
ENST00000333535.9:c.3162_3228+20del
ENST00000413689.6:c.3162_3228+20del
ENST00000423572.7:c.3162_3228+20del
ENST00000333535.8:c.3162_3228+20del
ENST00000413689.5:c.3162_3228+20del
ENST00000414099.6:c.3162_3228+20del
ENST00000423572.6:c.3162_3228+20del
ENST00000425664.5:c.3162_3228+20del
ENST00000449557.6:c.3162_3228+20del
ENST00000450102.6:c.3162_3228+20del
ENST00000451551.6:c.3162_3228+20del
ENST00000455624.6:c.3162_3228+20del
NM_000335.4:c.3162_3228+20del , LRG_289t2:c.3162_3228+20del
NM_001099404.1:c.3162_3228+20del , LRG_289t3:c.3162_3228+20del
NM_001099405.1:c.3162_3228+20del
NM_001160160.1:c.3162_3228+20del
NM_001160161.1:c.3162_3228+20del
NM_198056.2:c.3162_3228+20del , LRG_289t1:c.3162_3228+20del
XM_006713282.2:c.3162_3228+20del
XM_011533991.1:c.3162_3228+20del
XM_011533992.1:c.3033_3099+20del
NM_001354701.1:c.3162_3228+20del
XM_011533991.2:c.3162_3228+20del
XM_017007017.1:c.3162_3228+20del
NM_000335.5:c.3162_3228+20del
NM_001160160.2:c.3162_3228+20del
NM_001354701.2:c.3162_3228+20del
NM_001099404.2:c.3162_3228+20del
NM_001099405.2:c.3162_3228+20del
NM_001160161.2:c.3162_3228+20del
NM_198056.3:c.3162_3228+20del