Canonical Allele Identifier: CA2499225386

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 1074371
• ClinVar RCV Id: RCV001387640
• dbSNP Id: rs2144772838

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262738del , CM000681.2:g.13262738del	GRCh38
NC_000019.9:g.13373552del , CM000681.1:g.13373552del	GRCh37
NC_000019.8:g.13234552del	NCBI36
NG_011569.1:g.248723del , LRG_7:g.248723del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4085del MANE Select	ENSP00000353362.5:p.Leu1362ProfsTer9
ENST00000573710.7:c.4091del	ENSP00000460092.3:p.Leu1364ProfsTer9
ENST00000635727.1:c.4088del	ENSP00000490001.1:p.Leu1363ProfsTer9
ENST00000635742.1:n.74del
ENST00000635895.1:c.4088del	ENSP00000490323.1:p.Leu1363ProfsTer9
ENST00000635917.1:n.577del
ENST00000636012.1:c.4088del	ENSP00000490223.1:p.Leu1363ProfsTer9
ENST00000636389.1:c.4088del	ENSP00000489992.1:p.Leu1363ProfsTer9
ENST00000636549.1:c.4088del	ENSP00000490578.1:p.Leu1363ProfsTer9
ENST00000636816.1:n.773del
ENST00000637004.1:n.551del
ENST00000637276.1:c.4088del	ENSP00000489777.1:p.Leu1363ProfsTer9
ENST00000637432.1:c.4097del	ENSP00000490617.1:p.Leu1366ProfsTer9
ENST00000637692.1:n.407del
ENST00000637736.1:c.3947del	ENSP00000489861.1:p.Leu1316ProfsTer9
ENST00000637769.1:c.4088del	ENSP00000489778.1:p.Leu1363ProfsTer9
ENST00000637927.1:c.4091del	ENSP00000489715.1:p.Leu1364ProfsTer9
ENST00000638009.2:c.4088del	ENSP00000489913.1:p.Leu1363ProfsTer9
ENST00000638029.1:c.4097del	ENSP00000489829.1:p.Leu1366ProfsTer9
ENST00000664864.1:c.4283del	ENSP00000499449.1:p.Leu1428ProfsTer9
ENST00000360228.9:c.4085del	ENSP00000353362.5:p.Leu1362ProfsTer9
ENST00000573710.6:c.4088del	ENSP00000460092.2:p.Leu1363ProfsTer9
ENST00000585802.5:c.143del	ENSP00000465598.1:p.Leu48ProfsTer9
ENST00000590205.1:n.164del
ENST00000614285.4:c.4097del	ENSP00000479983.1:p.Leu1366ProfsTer9
NM_000068.3:c.4097del	NP_000059.3:p.Leu1366ProfsTer9
NM_001127221.1:c.4088del , LRG_7t1:c.4088del	NP_001120693.1:p.Leu1363ProfsTer9
NM_001127222.1:c.4085del	NP_001120694.1:p.Leu1362ProfsTer9
NM_001174080.1:c.4088del	NP_001167551.1:p.Leu1363ProfsTer9
NM_023035.2:c.4097del	NP_075461.2:p.Leu1366ProfsTer9
NM_000068.4:c.4097del	NP_000059.3:p.Leu1366ProfsTer9
NM_001127222.2:c.4085del MANE Select	NP_001120694.1:p.Leu1362ProfsTer9
NM_001174080.2:c.4088del	NP_001167551.1:p.Leu1363ProfsTer9
NM_023035.3:c.4097del	NP_075461.2:p.Leu1366ProfsTer9
NM_001127221.2:c.4088del	NP_001120693.1:p.Leu1363ProfsTer9