Canonical Allele Identifier: CA2695228371

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262787_13262795del , CM000681.2:g.13262787_13262795del	GRCh38
NC_000019.9:g.13373601_13373609del , CM000681.1:g.13373601_13373609del	GRCh37
NC_000019.8:g.13234601_13234609del	NCBI36
NG_011569.1:g.248666_248674del , LRG_7:g.248666_248674del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4028_4036del MANE Select	ENSP00000353362.5:p.Ser1343_Val1346delins...
ENST00000573710.7:c.4034_4042del	ENSP00000460092.3:p.Ser1345_Val1348delins...
ENST00000635727.1:c.4031_4039del	ENSP00000490001.1:p.Ser1344_Val1347delins...
ENST00000635742.1:n.17_25del
ENST00000635895.1:c.4031_4039del	ENSP00000490323.1:p.Ser1344_Val1347delins...
ENST00000635917.1:n.520_528del
ENST00000636012.1:c.4031_4039del	ENSP00000490223.1:p.Ser1344_Val1347delins...
ENST00000636389.1:c.4031_4039del	ENSP00000489992.1:p.Ser1344_Val1347delins...
ENST00000636549.1:c.4031_4039del	ENSP00000490578.1:p.Ser1344_Val1347delins...
ENST00000636816.1:n.716_724del
ENST00000637004.1:n.494_502del
ENST00000637276.1:c.4031_4039del	ENSP00000489777.1:p.Ser1344_Val1347delins...
ENST00000637432.1:c.4040_4048del	ENSP00000490617.1:p.Ser1347_Val1350delins...
ENST00000637692.1:n.350_358del
ENST00000637736.1:c.3890_3898del	ENSP00000489861.1:p.Ser1297_Val1300delins...
ENST00000637769.1:c.4031_4039del	ENSP00000489778.1:p.Ser1344_Val1347delins...
ENST00000637927.1:c.4034_4042del	ENSP00000489715.1:p.Ser1345_Val1348delins...
ENST00000638009.2:c.4031_4039del	ENSP00000489913.1:p.Ser1344_Val1347delins...
ENST00000638029.1:c.4040_4048del	ENSP00000489829.1:p.Ser1347_Val1350delins...
ENST00000664864.1:c.4226_4234del	ENSP00000499449.1:p.Ser1409_Val1412delins...
ENST00000360228.9:c.4028_4036del	ENSP00000353362.5:p.Ser1343_Val1346delins...
ENST00000573710.6:c.4031_4039del	ENSP00000460092.2:p.Ser1344_Val1347delins...
ENST00000585802.5:c.86_94del	ENSP00000465598.1:p.Ser29_Val32delinsPhe
ENST00000590205.1:n.107_115del
ENST00000614285.4:c.4040_4048del	ENSP00000479983.1:p.Ser1347_Val1350delins...
NM_000068.3:c.4040_4048del	NP_000059.3:p.Ser1347_Val1350delinsPhe
NM_001127221.1:c.4031_4039del , LRG_7t1:c.4031_4039del	NP_001120693.1:p.Ser1344_Val1347delinsPhe...
NM_001127222.1:c.4028_4036del	NP_001120694.1:p.Ser1343_Val1346delinsPhe...
NM_001174080.1:c.4031_4039del	NP_001167551.1:p.Ser1344_Val1347delinsPhe...
NM_023035.2:c.4040_4048del	NP_075461.2:p.Ser1347_Val1350delinsPhe
NM_000068.4:c.4040_4048del	NP_000059.3:p.Ser1347_Val1350delinsPhe
NM_001127222.2:c.4028_4036del MANE Select	NP_001120694.1:p.Ser1343_Val1346delinsPhe...
NM_001174080.2:c.4031_4039del	NP_001167551.1:p.Ser1344_Val1347delinsPhe...
NM_023035.3:c.4040_4048del	NP_075461.2:p.Ser1347_Val1350delinsPhe
NM_001127221.2:c.4031_4039del	NP_001120693.1:p.Ser1344_Val1347delinsPhe...