Canonical Allele Identifier: CA16603293
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 377185
ClinVar RCV Id: RCV000440018
dbSNP Id: rs1057520154
MyVariant Identifiers: chr19:g.13410109_13410110insACTGGTCCGCTGCTCCCACACGGACTTG (hg19) chr19:g.13299295_13299296insACTGGTCCGCTGCTCCCACACGGACTTG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13299296_13299323dup , CM000681.2:g.13299296_13299323dup GRCh38
NC_000019.9:g.13410110_13410137dup , CM000681.1:g.13410110_13410137dup GRCh37
NC_000019.8:g.13271110_13271137dup NCBI36
NG_011569.1:g.212138_212165dup , LRG_7:g.212138_212165dup

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.2310_2337dup MANE Select ENSP00000353362.5:p.Glu780GlnfsTer10
ENST00000573710.7:c.2316_2343dup ENSP00000460092.3:p.Glu782GlnfsTer10
ENST00000635727.1:c.2313_2340dup ENSP00000490001.1:p.Glu781GlnfsTer10
ENST00000635895.1:c.2313_2340dup ENSP00000490323.1:p.Glu781GlnfsTer10
ENST00000636012.1:c.2313_2340dup ENSP00000490223.1:p.Glu781GlnfsTer10
ENST00000636389.1:c.2313_2340dup ENSP00000489992.1:p.Glu781GlnfsTer10
ENST00000636549.1:c.2313_2340dup ENSP00000490578.1:p.Glu781GlnfsTer10
ENST00000637276.1:c.2313_2340dup ENSP00000489777.1:p.Glu781GlnfsTer10
ENST00000637432.1:c.2322_2349dup ENSP00000490617.1:p.Glu784GlnfsTer10
ENST00000637736.1:c.2172_2199dup ENSP00000489861.1:p.Glu734GlnfsTer10
ENST00000637769.1:c.2313_2340dup ENSP00000489778.1:p.Glu781GlnfsTer10
ENST00000637927.1:c.2316_2343dup ENSP00000489715.1:p.Glu782GlnfsTer10
ENST00000638009.2:c.2313_2340dup ENSP00000489913.1:p.Glu781GlnfsTer10
ENST00000638029.1:c.2322_2349dup ENSP00000489829.1:p.Glu784GlnfsTer10
ENST00000664864.1:c.2508_2535dup ENSP00000499449.1:p.Glu846GlnfsTer10
ENST00000360228.9:c.2310_2337dup ENSP00000353362.5:p.Glu780GlnfsTer10
ENST00000573710.6:c.2313_2340dup ENSP00000460092.2:p.Glu781GlnfsTer10
ENST00000614285.4:c.2322_2349dup ENSP00000479983.1:p.Glu784GlnfsTer10
NM_000068.3:c.2322_2349dup NP_000059.3:p.Glu784GlnfsTer10
NM_001127221.1:c.2313_2340dup , LRG_7t1:c.2313_2340dup NP_001120693.1:p.Glu781GlnfsTer10
NM_001127222.1:c.2310_2337dup NP_001120694.1:p.Glu780GlnfsTer10
NM_001174080.1:c.2313_2340dup NP_001167551.1:p.Glu781GlnfsTer10
NM_023035.2:c.2322_2349dup NP_075461.2:p.Glu784GlnfsTer10
NM_000068.4:c.2322_2349dup NP_000059.3:p.Glu784GlnfsTer10
NM_001127222.2:c.2310_2337dup MANE Select NP_001120694.1:p.Glu780GlnfsTer10
NM_001174080.2:c.2313_2340dup NP_001167551.1:p.Glu781GlnfsTer10
NM_023035.3:c.2322_2349dup NP_075461.2:p.Glu784GlnfsTer10
NM_001127221.2:c.2313_2340dup NP_001120693.1:p.Glu781GlnfsTer10
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Search 100 bp 3'