Canonical Allele Identifier: CA658795583

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 523972
• ClinVar RCV Id: RCV000627464
• dbSNP Id: rs1553248947
• gnomAD v4: 1-201051058-CT-C
• MyVariant Identifiers: chr1:g.201020187del (hg19) ; chr1:g.201051059del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201051059del , CM000663.2:g.201051059del	GRCh38
NC_000001.10:g.201020187del , CM000663.1:g.201020187del	GRCh37
NC_000001.9:g.199286810del	NCBI36
NG_009816.1:g.66508del
NG_009816.2:g.66508del

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.4038del MANE Select	ENSP00000355192.3:p.Glu1348ArgfsTer?
ENST00000679417.1:c.*3201del	ENSP00000506706.1:n.*3201del
ENST00000680051.1:n.1164del
ENST00000680059.1:c.*1556del	ENSP00000504944.1:n.*1556del
ENST00000681078.1:c.4038del	ENSP00000506645.1:p.Glu1348ArgfsTer?
ENST00000681190.1:c.*220del	ENSP00000506428.1:n.*220del
ENST00000681874.1:c.3978del	ENSP00000505162.1:p.Glu1328ArgfsTer?
ENST00000362061.3:c.4038del	ENSP00000355192.3:p.Glu1348ArgfsTer?
ENST00000367338.7:c.3981del	ENSP00000356307.3:p.Glu1329ArgfsTer?
NM_000069.2:c.4038del	NP_000060.2:p.Glu1348ArgfsTer?
XM_005245478.2:c.3981del	XP_005245535.1:p.Glu1329ArgfsTer?
XM_005245478.3:c.3981del	XP_005245535.1:p.Glu1329ArgfsTer?
NM_000069.3:c.4038del MANE Select	NP_000060.2:p.Glu1348ArgfsTer?