Canonical Allele Identifier: CA2323808331

Gene: CACNA1A

Linked Data

• dbSNP Id: rs2056729160

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13261310_13261311insTTGG , CM000681.2:g.13261310_13261311insTTGG	GRCh38
NC_000019.9:g.13372124_13372125insTTGG , CM000681.1:g.13372124_13372125insTTGG	GRCh37
NC_000019.8:g.13233124_13233125insTTGG	NCBI36
NG_011569.1:g.250150_250151insCCAA , LRG_7:g.250150_250151insCCAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4250+139_4250+140insCCAA MANE Select	ENSP00000353362.5:n.4250+139_4250+140insCCAA
ENST00000573710.7:c.4256+139_4256+140insCCAA	ENSP00000460092.3:n.4256+139_4256+140insCCAA
ENST00000590205.2:n.1395_1396insCCAA
ENST00000635727.1:c.4253+139_4253+140insCCAA	ENSP00000490001.1:n.4253+139_4253+140insCCAA
ENST00000635742.1:n.239+139_239+140insCCAA
ENST00000635895.1:c.4253+139_4253+140insCCAA	ENSP00000490323.1:n.4253+139_4253+140insCCAA
ENST00000635917.1:n.742+139_742+140insCCAA
ENST00000636012.1:c.4253+139_4253+140insCCAA	ENSP00000490223.1:n.4253+139_4253+140insCCAA
ENST00000636389.1:c.4253+139_4253+140insCCAA	ENSP00000489992.1:n.4253+139_4253+140insCCAA
ENST00000636549.1:c.4253+139_4253+140insCCAA	ENSP00000490578.1:n.4253+139_4253+140insCCAA
ENST00000636816.1:n.938+139_938+140insCCAA
ENST00000637004.1:n.716+139_716+140insCCAA
ENST00000637276.1:c.4253+139_4253+140insCCAA	ENSP00000489777.1:n.4253+139_4253+140insCCAA
ENST00000637432.1:c.4262+139_4262+140insCCAA	ENSP00000490617.1:n.4262+139_4262+140insCCAA
ENST00000637692.1:n.572+139_572+140insCCAA
ENST00000637736.1:c.4112+139_4112+140insCCAA	ENSP00000489861.1:n.4112+139_4112+140insCCAA
ENST00000637769.1:c.4253+139_4253+140insCCAA	ENSP00000489778.1:n.4253+139_4253+140insCCAA
ENST00000637927.1:c.4256+139_4256+140insCCAA	ENSP00000489715.1:n.4256+139_4256+140insCCAA
ENST00000638009.2:c.4253+139_4253+140insCCAA	ENSP00000489913.1:n.4253+139_4253+140insCCAA
ENST00000638029.1:c.4262+139_4262+140insCCAA	ENSP00000489829.1:n.4262+139_4262+140insCCAA
ENST00000664864.1:c.4448+139_4448+140insCCAA	ENSP00000499449.1:n.4448+139_4448+140insCCAA
ENST00000360228.9:c.4250+139_4250+140insCCAA	ENSP00000353362.5:n.4250+139_4250+140insCCAA
ENST00000573710.6:c.4253+139_4253+140insCCAA	ENSP00000460092.2:n.4253+139_4253+140insCCAA
ENST00000585802.5:c.308+139_308+140insCCAA	ENSP00000465598.1:n.308+139_308+140insCCAA
ENST00000614285.4:c.4262+139_4262+140insCCAA	ENSP00000479983.1:n.4262+139_4262+140insCCAA
NM_000068.3:c.4262+139_4262+140insCCAA	NP_000059.3:n.4262+139_4262+140insCCAA
NM_001127221.1:c.4253+139_4253+140insCCAA , LRG_7t1:c.4253+139_4253+140insCCAA	NP_001120693.1:n.4253+139_4253+140insCCAA
NM_001127222.1:c.4250+139_4250+140insCCAA	NP_001120694.1:n.4250+139_4250+140insCCAA
NM_001174080.1:c.4253+139_4253+140insCCAA	NP_001167551.1:n.4253+139_4253+140insCCAA
NM_023035.2:c.4262+139_4262+140insCCAA	NP_075461.2:n.4262+139_4262+140insCCAA
NM_000068.4:c.4262+139_4262+140insCCAA	NP_000059.3:n.4262+139_4262+140insCCAA
NM_001127222.2:c.4250+139_4250+140insCCAA MANE Select	NP_001120694.1:n.4250+139_4250+140insCCAA
NM_001174080.2:c.4253+139_4253+140insCCAA	NP_001167551.1:n.4253+139_4253+140insCCAA
NM_023035.3:c.4262+139_4262+140insCCAA	NP_075461.2:n.4262+139_4262+140insCCAA
NM_001127221.2:c.4253+139_4253+140insCCAA	NP_001120693.1:n.4253+139_4253+140insCCAA