Canonical Allele Identifier: CA2649766036

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201075578-T-TTG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075580_201075581dup , CM000663.2:g.201075580_201075581dup	GRCh38
NC_000001.10:g.201044708_201044709dup , CM000663.1:g.201044708_201044709dup	GRCh37
NC_000001.9:g.199311331_199311332dup	NCBI36
NG_009816.1:g.41987_41988dup
NG_009816.2:g.41987_41988dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1863_1864dup MANE Select	ENSP00000355192.3:p.Asn622ThrfsTer?
ENST00000679417.1:c.*1026_*1027dup	ENSP00000506706.1:n.*1026_*1027dup
ENST00000680059.1:c.1863_1864dup	ENSP00000504944.1:p.Asn622ThrfsTer?
ENST00000681078.1:c.1863_1864dup	ENSP00000506645.1:p.Asn622ThrfsTer?
ENST00000681190.1:c.1863_1864dup	ENSP00000506428.1:p.Asn622ThrfsTer?
ENST00000681874.1:c.1863_1864dup	ENSP00000505162.1:p.Asn622ThrfsTer?
ENST00000362061.3:c.1863_1864dup	ENSP00000355192.3:p.Asn622ThrfsTer?
ENST00000367338.7:c.1863_1864dup	ENSP00000356307.3:p.Asn622ThrfsTer?
NM_000069.2:c.1863_1864dup	NP_000060.2:p.Asn622ThrfsTer?
XM_005245478.2:c.1863_1864dup	XP_005245535.1:p.Asn622ThrfsTer?
XM_005245478.3:c.1863_1864dup	XP_005245535.1:p.Asn622ThrfsTer?
NM_000069.3:c.1863_1864dup MANE Select	NP_000060.2:p.Asn622ThrfsTer?