Canonical Allele Identifier: CA891842742

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 567517
• ClinVar RCV Id: RCV000687626
• dbSNP Id: rs1558071742
• MyVariant Identifiers: chr1:g.201046079del (hg19) ; chr1:g.201076951del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201076952del , CM000663.2:g.201076952del	GRCh38
NC_000001.10:g.201046080del , CM000663.1:g.201046080del	GRCh37
NC_000001.9:g.199312703del	NCBI36
NG_009816.1:g.40616del
NG_009816.2:g.40616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1796del MANE Select	ENSP00000355192.3:p.Asn599ThrfsTer13
ENST00000679417.1:c.*959del	ENSP00000506706.1:n.*959del
ENST00000680059.1:c.1796del	ENSP00000504944.1:p.Asn599ThrfsTer13
ENST00000681078.1:c.1796del	ENSP00000506645.1:p.Asn599ThrfsTer13
ENST00000681190.1:c.1796del	ENSP00000506428.1:p.Asn599ThrfsTer13
ENST00000681874.1:c.1796del	ENSP00000505162.1:p.Asn599ThrfsTer13
ENST00000362061.3:c.1796del	ENSP00000355192.3:p.Asn599ThrfsTer13
ENST00000367338.7:c.1796del	ENSP00000356307.3:p.Asn599ThrfsTer13
NM_000069.2:c.1796del	NP_000060.2:p.Asn599ThrfsTer13
XM_005245478.2:c.1796del	XP_005245535.1:p.Asn599ThrfsTer13
XM_005245478.3:c.1796del	XP_005245535.1:p.Asn599ThrfsTer13
NM_000069.3:c.1796del MANE Select	NP_000060.2:p.Asn599ThrfsTer13