Canonical Allele Identifier: CA16620774
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 423055
ClinVar RCV Id: RCV000479729
dbSNP Id: rs1064796199
MyVariant Identifiers: chr19:g.13323273del (hg19) chr19:g.13212459del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13212459del , CM000681.2:g.13212459del GRCh38
NC_000019.9:g.13323273del , CM000681.1:g.13323273del GRCh37
NC_000019.8:g.13184273del NCBI36
NG_011569.1:g.299002del , LRG_7:g.299002del

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.6114del MANE Select ENSP00000353362.5:p.Met2038IlefsTer?
ENST00000573710.7:c.6120del ENSP00000460092.3:p.Met2040IlefsTer?
ENST00000585802.6:c.1275del ENSP00000465598.2:p.Met425IlefsTer?
ENST00000635727.1:c.6117del ENSP00000490001.1:p.Met2039IlefsTer?
ENST00000635895.1:c.6117del ENSP00000490323.1:p.Met2039IlefsTer?
ENST00000636012.1:c.6117del ENSP00000490223.1:p.Met2039IlefsTer?
ENST00000636389.1:c.6117del ENSP00000489992.1:p.Met2039IlefsTer?
ENST00000636473.1:c.984del ENSP00000490173.1:p.Met328IlefsTer?
ENST00000636549.1:c.6123del ENSP00000490578.1:p.Met2041IlefsTer?
ENST00000636610.1:n.1031del
ENST00000636768.1:c.644del ENSP00000490190.1:n.644del
ENST00000637276.1:c.6117del ENSP00000489777.1:p.Met2039IlefsTer?
ENST00000637432.1:c.6132del ENSP00000490617.1:p.Met2044IlefsTer?
ENST00000637736.1:c.5976del ENSP00000489861.1:p.Met1992IlefsTer?
ENST00000637769.1:c.6117del ENSP00000489778.1:p.Met2039IlefsTer?
ENST00000637927.1:c.6120del ENSP00000489715.1:p.Met2040IlefsTer?
ENST00000638009.2:c.6117del ENSP00000489913.1:p.Met2039IlefsTer?
ENST00000638029.1:c.6132del ENSP00000489829.1:p.Met2044IlefsTer?
ENST00000664864.1:c.6318del ENSP00000499449.1:p.Met2106IlefsTer?
ENST00000360228.9:c.6114del ENSP00000353362.5:p.Met2038IlefsTer?
ENST00000573710.6:c.6117del ENSP00000460092.2:p.Met2039IlefsTer?
ENST00000585802.5:c.2172del ENSP00000465598.1:p.Met724IlefsTer?
ENST00000587525.5:c.1575del ENSP00000467729.1:p.Met525IlefsTer?
ENST00000614285.4:c.6132del ENSP00000479983.1:p.Met2044IlefsTer?
NM_000068.3:c.6132del NP_000059.3:p.Met2044IlefsTer?
NM_001127221.1:c.6117del , LRG_7t1:c.6117del NP_001120693.1:p.Met2039IlefsTer?
NM_001127222.1:c.6114del NP_001120694.1:p.Met2038IlefsTer?
NM_001174080.1:c.6123del NP_001167551.1:p.Met2041IlefsTer?
NM_023035.2:c.6132del NP_075461.2:p.Met2044IlefsTer?
NM_000068.4:c.6132del NP_000059.3:p.Met2044IlefsTer?
NM_001127222.2:c.6114del MANE Select NP_001120694.1:p.Met2038IlefsTer?
NM_001174080.2:c.6123del NP_001167551.1:p.Met2041IlefsTer?
NM_023035.3:c.6132del NP_075461.2:p.Met2044IlefsTer?
NM_001127221.2:c.6117del NP_001120693.1:p.Met2039IlefsTer?
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