Canonical Allele Identifier: CA2323854412
Gene: CACNA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13359825_13359827delinsCAG , CM000681.2:g.13359825_13359827delinsCAG GRCh38
NC_000019.9:g.13470639_13470641delinsCAG , CM000681.1:g.13470639_13470641delinsCAG GRCh37
NC_000019.8:g.13331639_13331641delinsCAG NCBI36
NG_011569.1:g.151634_151636delinsCTG , LRG_7:g.151634_151636delinsCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000360228.11:c.785-28_785-26delinsCTG MANE Select ENSP00000353362.5:n.785-28_785-26delinsCTG
ENST00000573710.7:c.785-28_785-26delinsCTG ENSP00000460092.3:n.785-28_785-26delinsCTG
ENST00000593160.2:n.500-28_500-26delinsCTG
ENST00000635727.1:c.785-28_785-26delinsCTG ENSP00000490001.1:n.785-28_785-26delinsCTG
ENST00000635895.1:c.785-28_785-26delinsCTG ENSP00000490323.1:n.785-28_785-26delinsCTG
ENST00000636012.1:c.785-28_785-26delinsCTG ENSP00000490223.1:n.785-28_785-26delinsCTG
ENST00000636389.1:c.785-28_785-26delinsCTG ENSP00000489992.1:n.785-28_785-26delinsCTG
ENST00000636549.1:c.785-28_785-26delinsCTG ENSP00000490578.1:n.785-28_785-26delinsCTG
ENST00000636974.1:n.144-28_144-26delinsCTG
ENST00000637276.1:c.785-28_785-26delinsCTG ENSP00000489777.1:n.785-28_785-26delinsCTG
ENST00000637432.1:c.785-28_785-26delinsCTG ENSP00000490617.1:n.785-28_785-26delinsCTG
ENST00000637736.1:c.644-28_644-26delinsCTG ENSP00000489861.1:n.644-28_644-26delinsCTG
ENST00000637769.1:c.785-28_785-26delinsCTG ENSP00000489778.1:n.785-28_785-26delinsCTG
ENST00000637927.1:c.785-28_785-26delinsCTG ENSP00000489715.1:n.785-28_785-26delinsCTG
ENST00000637966.1:n.638-28_638-26delinsCTG
ENST00000638009.2:c.785-28_785-26delinsCTG ENSP00000489913.1:n.785-28_785-26delinsCTG
ENST00000638029.1:c.785-28_785-26delinsCTG ENSP00000489829.1:n.785-28_785-26delinsCTG
ENST00000664864.1:c.980-28_980-26delinsCTG ENSP00000499449.1:n.980-28_980-26delinsCTG
ENST00000360228.9:c.785-28_785-26delinsCTG ENSP00000353362.5:n.785-28_785-26delinsCTG
ENST00000573710.6:c.785-28_785-26delinsCTG ENSP00000460092.2:n.785-28_785-26delinsCTG
ENST00000593160.1:n.5-28_5-26delinsCTG
ENST00000614285.4:c.785-28_785-26delinsCTG ENSP00000479983.1:n.785-28_785-26delinsCTG
NM_000068.3:c.785-28_785-26delinsCTG NP_000059.3:n.785-28_785-26delinsCTG
NM_001127221.1:c.785-28_785-26delinsCTG , LRG_7t1:c.785-28_785-26delinsCTG NP_001120693.1:n.785-28_785-26delinsCTG
NM_001127222.1:c.785-28_785-26delinsCTG NP_001120694.1:n.785-28_785-26delinsCTG
NM_001174080.1:c.785-28_785-26delinsCTG NP_001167551.1:n.785-28_785-26delinsCTG
NM_023035.2:c.785-28_785-26delinsCTG NP_075461.2:n.785-28_785-26delinsCTG
NM_000068.4:c.785-28_785-26delinsCTG NP_000059.3:n.785-28_785-26delinsCTG
NM_001127222.2:c.785-28_785-26delinsCTG MANE Select NP_001120694.1:n.785-28_785-26delinsCTG
NM_001174080.2:c.785-28_785-26delinsCTG NP_001167551.1:n.785-28_785-26delinsCTG
NM_023035.3:c.785-28_785-26delinsCTG NP_075461.2:n.785-28_785-26delinsCTG
NM_001127221.2:c.785-28_785-26delinsCTG NP_001120693.1:n.785-28_785-26delinsCTG