Canonical Allele Identifier: CA2573131456
Gene: CACNA1S HGNC NCBI

Linked Data

ClinVar Variation Id: 1591138
ClinVar RCV Id: RCV002103980

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201040053_201040054delinsTG , CM000663.2:g.201040053_201040054delinsTG GRCh38
NC_000001.10:g.201009181_201009182delinsTG , CM000663.1:g.201009181_201009182delinsTG GRCh37
NC_000001.9:g.199275804_199275805delinsTG NCBI36
NG_009816.1:g.77513_77514delinsCA
NG_009816.2:g.77513_77514delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000362061.4:c.5399_5400delinsCA MANE Select ENSP00000355192.3:p.Leu1800Ser
ENST00000679417.1:c.*4562_*4563delinsCA ENSP00000506706.1:n.*4562_*4563delinsCA
ENST00000680059.1:c.*2917_*2918delinsCA ENSP00000504944.1:n.*2917_*2918delinsCA
ENST00000681078.1:c.*1174_*1175delinsCA ENSP00000506645.1:n.*1174_*1175delinsCA
ENST00000681190.1:c.*1581_*1582delinsCA ENSP00000506428.1:n.*1581_*1582delinsCA
ENST00000681874.1:c.5339_5340delinsCA ENSP00000505162.1:p.Leu1780Ser
ENST00000362061.3:c.5399_5400delinsCA ENSP00000355192.3:p.Leu1800Ser
ENST00000367338.7:c.5342_5343delinsCA ENSP00000356307.3:p.Leu1781Ser
NM_000069.2:c.5399_5400delinsCA NP_000060.2:p.Leu1800Ser
XM_005245478.2:c.5342_5343delinsCA XP_005245535.1:p.Leu1781Ser
XR_241170.3:n.1465-1802_1465-1801delinsTG
XR_922405.1:n.2003-1802_2003-1801delinsTG
XR_922406.1:n.2281-1802_2281-1801delinsTG
XR_922407.1:n.2191-1802_2191-1801delinsTG
XR_922408.1:n.1369-1802_1369-1801delinsTG
XR_922409.1:n.1984-1802_1984-1801delinsTG
XR_922410.1:n.1391-1802_1391-1801delinsTG
XR_922411.1:n.1983-1802_1983-1801delinsTG
XR_922412.1:n.2197-1802_2197-1801delinsTG
XR_922413.1:n.2093-1802_2093-1801delinsTG
XR_922414.1:n.1300-1802_1300-1801delinsTG
XR_922415.1:n.1869-1802_1869-1801delinsTG
XR_922416.1:n.1309-1802_1309-1801delinsTG
XR_922417.1:n.1887-1802_1887-1801delinsTG
XR_922418.1:n.1821-1802_1821-1801delinsTG
XR_922419.1:n.1215-1802_1215-1801delinsTG
XR_922420.1:n.1687-1802_1687-1801delinsTG
XM_005245478.3:c.5342_5343delinsCA XP_005245535.1:p.Leu1781Ser
XR_001738364.1:n.1652-1802_1652-1801delinsTG
XR_001738365.1:n.1562-1802_1562-1801delinsTG
XR_001738366.1:n.1355-1802_1355-1801delinsTG
XR_001738367.1:n.1568-1802_1568-1801delinsTG
XR_001738368.1:n.1464-1802_1464-1801delinsTG
XR_001738369.1:n.1240-1802_1240-1801delinsTG
XR_001738370.1:n.1192-1802_1192-1801delinsTG
XR_001738371.1:n.586-1802_586-1801delinsTG
XR_001738372.1:n.1058-1802_1058-1801delinsTG
XR_922405.3:n.2113-1802_2113-1801delinsTG
XR_922407.3:n.2301-1802_2301-1801delinsTG
XR_922408.2:n.1374-1802_1374-1801delinsTG
XR_922410.2:n.1383-1802_1383-1801delinsTG
XR_922414.2:n.1292-1802_1292-1801delinsTG
XR_922416.2:n.1301-1802_1301-1801delinsTG
XR_922417.3:n.1997-1802_1997-1801delinsTG
NM_000069.3:c.5399_5400delinsCA MANE Select NP_000060.2:p.Leu1800Ser