Canonical Allele Identifier: CA2582831159
Gene: CACNA1A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13277034_13277035del , CM000681.2:g.13277034_13277035del GRCh38
NC_000019.9:g.13387848_13387849del , CM000681.1:g.13387848_13387849del GRCh37
NC_000019.8:g.13248848_13248849del NCBI36
NG_011569.1:g.234426_234427del , LRG_7:g.234426_234427del

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.3882+34_3882+35del MANE Select ENSP00000353362.5:n.3882+34_3882+35del
ENST00000573710.7:c.3888+34_3888+35del ENSP00000460092.3:n.3888+34_3888+35del
ENST00000635727.1:c.3885+34_3885+35del ENSP00000490001.1:n.3885+34_3885+35del
ENST00000635786.1:n.381+34_381+35del
ENST00000635895.1:c.3885+34_3885+35del ENSP00000490323.1:n.3885+34_3885+35del
ENST00000635917.1:n.374+34_374+35del
ENST00000636012.1:c.3885+34_3885+35del ENSP00000490223.1:n.3885+34_3885+35del
ENST00000636389.1:c.3885+34_3885+35del ENSP00000489992.1:n.3885+34_3885+35del
ENST00000636549.1:c.3885+34_3885+35del ENSP00000490578.1:n.3885+34_3885+35del
ENST00000637004.1:n.348+34_348+35del
ENST00000637276.1:c.3885+34_3885+35del ENSP00000489777.1:n.3885+34_3885+35del
ENST00000637432.1:c.3894+34_3894+35del ENSP00000490617.1:n.3894+34_3894+35del
ENST00000637485.1:n.865+34_865+35del
ENST00000637736.1:c.3744+34_3744+35del ENSP00000489861.1:n.3744+34_3744+35del
ENST00000637769.1:c.3885+34_3885+35del ENSP00000489778.1:n.3885+34_3885+35del
ENST00000637774.1:n.1362+34_1362+35del
ENST00000637927.1:c.3888+34_3888+35del ENSP00000489715.1:n.3888+34_3888+35del
ENST00000638009.2:c.3885+34_3885+35del ENSP00000489913.1:n.3885+34_3885+35del
ENST00000638029.1:c.3894+34_3894+35del ENSP00000489829.1:n.3894+34_3894+35del
ENST00000664864.1:c.4080+34_4080+35del ENSP00000499449.1:n.4080+34_4080+35del
ENST00000360228.9:c.3882+34_3882+35del ENSP00000353362.5:n.3882+34_3882+35del
ENST00000573710.6:c.3885+34_3885+35del ENSP00000460092.2:n.3885+34_3885+35del
ENST00000614285.4:c.3894+34_3894+35del ENSP00000479983.1:n.3894+34_3894+35del
NM_000068.3:c.3894+34_3894+35del NP_000059.3:n.3894+34_3894+35del
NM_001127221.1:c.3885+34_3885+35del , LRG_7t1:c.3885+34_3885+35del NP_001120693.1:n.3885+34_3885+35del
NM_001127222.1:c.3882+34_3882+35del NP_001120694.1:n.3882+34_3882+35del
NM_001174080.1:c.3885+34_3885+35del NP_001167551.1:n.3885+34_3885+35del
NM_023035.2:c.3894+34_3894+35del NP_075461.2:n.3894+34_3894+35del
NM_000068.4:c.3894+34_3894+35del NP_000059.3:n.3894+34_3894+35del
NM_001127222.2:c.3882+34_3882+35del MANE Select NP_001120694.1:n.3882+34_3882+35del
NM_001174080.2:c.3885+34_3885+35del NP_001167551.1:n.3885+34_3885+35del
NM_023035.3:c.3894+34_3894+35del NP_075461.2:n.3894+34_3894+35del
NM_001127221.2:c.3885+34_3885+35del NP_001120693.1:n.3885+34_3885+35del