Canonical Allele Identifier: CA2580096691

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 2003613
• ClinVar RCV Id: RCV002811312 ; RCV003229097

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262786_13262794del , CM000681.2:g.13262786_13262794del	GRCh38
NC_000019.9:g.13373600_13373608del , CM000681.1:g.13373600_13373608del	GRCh37
NC_000019.8:g.13234600_13234608del	NCBI36
NG_011569.1:g.248673_248681del , LRG_7:g.248673_248681del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4035_4043del MANE Select	ENSP00000353362.5:p.Val1346_Arg1348del
ENST00000573710.7:c.4041_4049del	ENSP00000460092.3:p.Val1348_Arg1350del
ENST00000635727.1:c.4038_4046del	ENSP00000490001.1:p.Val1347_Arg1349del
ENST00000635742.1:n.24_32del
ENST00000635895.1:c.4038_4046del	ENSP00000490323.1:p.Val1347_Arg1349del
ENST00000635917.1:n.527_535del
ENST00000636012.1:c.4038_4046del	ENSP00000490223.1:p.Val1347_Arg1349del
ENST00000636389.1:c.4038_4046del	ENSP00000489992.1:p.Val1347_Arg1349del
ENST00000636549.1:c.4038_4046del	ENSP00000490578.1:p.Val1347_Arg1349del
ENST00000636816.1:n.723_731del
ENST00000637004.1:n.501_509del
ENST00000637276.1:c.4038_4046del	ENSP00000489777.1:p.Val1347_Arg1349del
ENST00000637432.1:c.4047_4055del	ENSP00000490617.1:p.Val1350_Arg1352del
ENST00000637692.1:n.357_365del
ENST00000637736.1:c.3897_3905del	ENSP00000489861.1:p.Val1300_Arg1302del
ENST00000637769.1:c.4038_4046del	ENSP00000489778.1:p.Val1347_Arg1349del
ENST00000637927.1:c.4041_4049del	ENSP00000489715.1:p.Val1348_Arg1350del
ENST00000638009.2:c.4038_4046del	ENSP00000489913.1:p.Val1347_Arg1349del
ENST00000638029.1:c.4047_4055del	ENSP00000489829.1:p.Val1350_Arg1352del
ENST00000664864.1:c.4233_4241del	ENSP00000499449.1:p.Val1412_Arg1414del
ENST00000360228.9:c.4035_4043del	ENSP00000353362.5:p.Val1346_Arg1348del
ENST00000573710.6:c.4038_4046del	ENSP00000460092.2:p.Val1347_Arg1349del
ENST00000585802.5:c.93_101del	ENSP00000465598.1:p.Val32_Arg34del
ENST00000590205.1:n.114_122del
ENST00000614285.4:c.4047_4055del	ENSP00000479983.1:p.Val1350_Arg1352del
NM_000068.3:c.4047_4055del	NP_000059.3:p.Val1350_Arg1352del
NM_001127221.1:c.4038_4046del , LRG_7t1:c.4038_4046del	NP_001120693.1:p.Val1347_Arg1349del
NM_001127222.1:c.4035_4043del	NP_001120694.1:p.Val1346_Arg1348del
NM_001174080.1:c.4038_4046del	NP_001167551.1:p.Val1347_Arg1349del
NM_023035.2:c.4047_4055del	NP_075461.2:p.Val1350_Arg1352del
NM_000068.4:c.4047_4055del	NP_000059.3:p.Val1350_Arg1352del
NM_001127222.2:c.4035_4043del MANE Select	NP_001120694.1:p.Val1346_Arg1348del
NM_001174080.2:c.4038_4046del	NP_001167551.1:p.Val1347_Arg1349del
NM_023035.3:c.4047_4055del	NP_075461.2:p.Val1350_Arg1352del
NM_001127221.2:c.4038_4046del	NP_001120693.1:p.Val1347_Arg1349del