Canonical Allele Identifier: CA2540434058
Gene: CACNA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13359786_13359788del , CM000681.2:g.13359786_13359788del GRCh38
NC_000019.9:g.13470600_13470602del , CM000681.1:g.13470600_13470602del GRCh37
NC_000019.8:g.13331600_13331602del NCBI36
NG_011569.1:g.151674_151676del , LRG_7:g.151674_151676del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360228.11:c.797_799del MANE Select ENSP00000353362.5:p.Gly266del
ENST00000573710.7:c.797_799del ENSP00000460092.3:p.Gly266del
ENST00000593160.2:n.512_514del
ENST00000635727.1:c.797_799del ENSP00000490001.1:p.Gly266del
ENST00000635895.1:c.797_799del ENSP00000490323.1:p.Gly266del
ENST00000636012.1:c.797_799del ENSP00000490223.1:p.Gly266del
ENST00000636389.1:c.797_799del ENSP00000489992.1:p.Gly266del
ENST00000636549.1:c.797_799del ENSP00000490578.1:p.Gly266del
ENST00000636974.1:n.156_158del
ENST00000637276.1:c.797_799del ENSP00000489777.1:p.Gly266del
ENST00000637432.1:c.797_799del ENSP00000490617.1:p.Gly266del
ENST00000637736.1:c.656_658del ENSP00000489861.1:p.Gly219del
ENST00000637769.1:c.797_799del ENSP00000489778.1:p.Gly266del
ENST00000637927.1:c.797_799del ENSP00000489715.1:p.Gly266del
ENST00000637966.1:n.650_652del
ENST00000638009.2:c.797_799del ENSP00000489913.1:p.Gly266del
ENST00000638029.1:c.797_799del ENSP00000489829.1:p.Gly266del
ENST00000664864.1:c.992_994del ENSP00000499449.1:p.Gly331del
ENST00000360228.9:c.797_799del ENSP00000353362.5:p.Gly266del
ENST00000573710.6:c.797_799del ENSP00000460092.2:p.Gly266del
ENST00000593160.1:n.17_19del
ENST00000614285.4:c.797_799del ENSP00000479983.1:p.Gly266del
NM_000068.3:c.797_799del NP_000059.3:p.Gly266del
NM_001127221.1:c.797_799del , LRG_7t1:c.797_799del NP_001120693.1:p.Gly266del
NM_001127222.1:c.797_799del NP_001120694.1:p.Gly266del
NM_001174080.1:c.797_799del NP_001167551.1:p.Gly266del
NM_023035.2:c.797_799del NP_075461.2:p.Gly266del
NM_000068.4:c.797_799del NP_000059.3:p.Gly266del
NM_001127222.2:c.797_799del MANE Select NP_001120694.1:p.Gly266del
NM_001174080.2:c.797_799del NP_001167551.1:p.Gly266del
NM_023035.3:c.797_799del NP_075461.2:p.Gly266del
NM_001127221.2:c.797_799del NP_001120693.1:p.Gly266del