Canonical Allele Identifier: CA2323859990
Gene: CACNA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13371357_13371386delinsCTCAGTTTCCCCCTCCATAAAATAGAGACA , CM000681.2:g.13371357_13371386delinsCTCAGTTTCCCCCTCCATAAAATAGAGACA GRCh38
NC_000019.9:g.13482171_13482200delinsCTCAGTTTCCCCCTCCATAAAATAGAGACA , CM000681.1:g.13482171_13482200delinsCTCAGTTTCCCCCTCCATAAAATAGAGACA GRCh37
NC_000019.8:g.13343171_13343200delinsCTCAGTTTCCCCCTCCATAAAATAGAGACA NCBI36
NG_011569.1:g.140075_140104delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG , LRG_7:g.140075_140104delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000360228.11:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG MANE Select ENSP00000353362.5:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000573710.7:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000460092.3:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000593160.2:n.346+302_346+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG
ENST00000635727.1:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000490001.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000635895.1:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000490323.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000636012.1:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000490223.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000636389.1:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000489992.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000636549.1:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000490578.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000636966.1:n.519+302_519+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG
ENST00000637276.1:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000489777.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000637432.1:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000490617.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000637736.1:c.490+302_490+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000489861.1:n.490+302_490+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000637769.1:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000489778.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000637927.1:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000489715.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000637966.1:n.484+302_484+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG
ENST00000637981.1:n.751_780delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG
ENST00000638009.2:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000489913.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000638029.1:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000489829.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000664864.1:c.826+302_826+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000499449.1:n.826+302_826+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000360228.9:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000353362.5:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000573710.6:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000460092.2:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
ENST00000614285.4:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG ENSP00000479983.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGG...
NM_000068.3:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG NP_000059.3:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAAC...
NM_001127221.1:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG , LRG_7t1:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG NP_001120693.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGA...
NM_001127222.1:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG NP_001120694.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGA...
NM_001174080.1:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG NP_001167551.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGA...
NM_023035.2:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG NP_075461.2:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAAC...
NM_000068.4:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG NP_000059.3:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAAC...
NM_001127222.2:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG MANE Select NP_001120694.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGA...
NM_001174080.2:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG NP_001167551.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGA...
NM_023035.3:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG NP_075461.2:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAAC...
NM_001127221.2:c.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGAAACTGAG NP_001120693.1:n.631+302_631+331delinsTGTCTCTATTTTATGGAGGGGGA...