Canonical Allele Identifier: CA2323808375

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13261393_13261405delinsTTCCCCCCTGCCC , CM000681.2:g.13261393_13261405delinsTTCCCCCCTGCCC	GRCh38
NC_000019.9:g.13372207_13372219delinsTTCCCCCCTGCCC , CM000681.1:g.13372207_13372219delinsTTCCCCCCTGCCC	GRCh37
NC_000019.8:g.13233207_13233219delinsTTCCCCCCTGCCC	NCBI36
NG_011569.1:g.250056_250068delinsGGGCAGGGGGGAA , LRG_7:g.250056_250068delinsGGGCAGGGGGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4250+45_4250+57delinsGGGCAGGGGGGAA MANE Select	ENSP00000353362.5:n.4250+45_4250+57delinsGGGCAGGGGGGAA
ENST00000573710.7:c.4256+45_4256+57delinsGGGCAGGGGGGAA	ENSP00000460092.3:n.4256+45_4256+57delinsGGGCAGGGGGGAA
ENST00000590205.2:n.1301_1313delinsGGGCAGGGGGGAA
ENST00000635727.1:c.4253+45_4253+57delinsGGGCAGGGGGGAA	ENSP00000490001.1:n.4253+45_4253+57delinsGGGCAGGGGGGAA
ENST00000635742.1:n.239+45_239+57delinsGGGCAGGGGGGAA
ENST00000635895.1:c.4253+45_4253+57delinsGGGCAGGGGGGAA	ENSP00000490323.1:n.4253+45_4253+57delinsGGGCAGGGGGGAA
ENST00000635917.1:n.742+45_742+57delinsGGGCAGGGGGGAA
ENST00000636012.1:c.4253+45_4253+57delinsGGGCAGGGGGGAA	ENSP00000490223.1:n.4253+45_4253+57delinsGGGCAGGGGGGAA
ENST00000636389.1:c.4253+45_4253+57delinsGGGCAGGGGGGAA	ENSP00000489992.1:n.4253+45_4253+57delinsGGGCAGGGGGGAA
ENST00000636549.1:c.4253+45_4253+57delinsGGGCAGGGGGGAA	ENSP00000490578.1:n.4253+45_4253+57delinsGGGCAGGGGGGAA
ENST00000636816.1:n.938+45_938+57delinsGGGCAGGGGGGAA
ENST00000637004.1:n.716+45_716+57delinsGGGCAGGGGGGAA
ENST00000637276.1:c.4253+45_4253+57delinsGGGCAGGGGGGAA	ENSP00000489777.1:n.4253+45_4253+57delinsGGGCAGGGGGGAA
ENST00000637432.1:c.4262+45_4262+57delinsGGGCAGGGGGGAA	ENSP00000490617.1:n.4262+45_4262+57delinsGGGCAGGGGGGAA
ENST00000637692.1:n.572+45_572+57delinsGGGCAGGGGGGAA
ENST00000637736.1:c.4112+45_4112+57delinsGGGCAGGGGGGAA	ENSP00000489861.1:n.4112+45_4112+57delinsGGGCAGGGGGGAA
ENST00000637769.1:c.4253+45_4253+57delinsGGGCAGGGGGGAA	ENSP00000489778.1:n.4253+45_4253+57delinsGGGCAGGGGGGAA
ENST00000637927.1:c.4256+45_4256+57delinsGGGCAGGGGGGAA	ENSP00000489715.1:n.4256+45_4256+57delinsGGGCAGGGGGGAA
ENST00000638009.2:c.4253+45_4253+57delinsGGGCAGGGGGGAA	ENSP00000489913.1:n.4253+45_4253+57delinsGGGCAGGGGGGAA
ENST00000638029.1:c.4262+45_4262+57delinsGGGCAGGGGGGAA	ENSP00000489829.1:n.4262+45_4262+57delinsGGGCAGGGGGGAA
ENST00000664864.1:c.4448+45_4448+57delinsGGGCAGGGGGGAA	ENSP00000499449.1:n.4448+45_4448+57delinsGGGCAGGGGGGAA
ENST00000360228.9:c.4250+45_4250+57delinsGGGCAGGGGGGAA	ENSP00000353362.5:n.4250+45_4250+57delinsGGGCAGGGGGGAA
ENST00000573710.6:c.4253+45_4253+57delinsGGGCAGGGGGGAA	ENSP00000460092.2:n.4253+45_4253+57delinsGGGCAGGGGGGAA
ENST00000585802.5:c.308+45_308+57delinsGGGCAGGGGGGAA	ENSP00000465598.1:n.308+45_308+57delinsGGGCAGGGGGGAA
ENST00000614285.4:c.4262+45_4262+57delinsGGGCAGGGGGGAA	ENSP00000479983.1:n.4262+45_4262+57delinsGGGCAGGGGGGAA
NM_000068.3:c.4262+45_4262+57delinsGGGCAGGGGGGAA	NP_000059.3:n.4262+45_4262+57delinsGGGCAGGGGGGAA
NM_001127221.1:c.4253+45_4253+57delinsGGGCAGGGGGGAA , LRG_7t1:c.4253+45_4253+57delinsGGGCAGGGGGGAA	NP_001120693.1:n.4253+45_4253+57delinsGGGCAGGGGGGAA
NM_001127222.1:c.4250+45_4250+57delinsGGGCAGGGGGGAA	NP_001120694.1:n.4250+45_4250+57delinsGGGCAGGGGGGAA
NM_001174080.1:c.4253+45_4253+57delinsGGGCAGGGGGGAA	NP_001167551.1:n.4253+45_4253+57delinsGGGCAGGGGGGAA
NM_023035.2:c.4262+45_4262+57delinsGGGCAGGGGGGAA	NP_075461.2:n.4262+45_4262+57delinsGGGCAGGGGGGAA
NM_000068.4:c.4262+45_4262+57delinsGGGCAGGGGGGAA	NP_000059.3:n.4262+45_4262+57delinsGGGCAGGGGGGAA
NM_001127222.2:c.4250+45_4250+57delinsGGGCAGGGGGGAA MANE Select	NP_001120694.1:n.4250+45_4250+57delinsGGGCAGGGGGGAA
NM_001174080.2:c.4253+45_4253+57delinsGGGCAGGGGGGAA	NP_001167551.1:n.4253+45_4253+57delinsGGGCAGGGGGGAA
NM_023035.3:c.4262+45_4262+57delinsGGGCAGGGGGGAA	NP_075461.2:n.4262+45_4262+57delinsGGGCAGGGGGGAA
NM_001127221.2:c.4253+45_4253+57delinsGGGCAGGGGGGAA	NP_001120693.1:n.4253+45_4253+57delinsGGGCAGGGGGGAA