Canonical Allele Identifier: CA2825002748

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 3236016
• ClinVar RCV Id: RCV004555277

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235681del , CM000681.2:g.13235681del	GRCh38
NC_000019.9:g.13346495del , CM000681.1:g.13346495del	GRCh37
NC_000019.8:g.13207495del	NCBI36
NG_011569.1:g.275780del , LRG_7:g.275780del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5000del MANE Select	ENSP00000353362.5:p.Leu1667ProfsTer?
ENST00000573710.7:c.5006del	ENSP00000460092.3:p.Leu1669ProfsTer?
ENST00000573891.6:c.419del
ENST00000574822.6:n.224del
ENST00000585802.6:c.161del	ENSP00000465598.2:p.Leu54ProfsTer?
ENST00000593267.2:n.205del
ENST00000635727.1:c.5003del	ENSP00000490001.1:p.Leu1668ProfsTer?
ENST00000635742.1:n.989del
ENST00000635895.1:c.5003del	ENSP00000490323.1:p.Leu1668ProfsTer?
ENST00000636012.1:c.5003del	ENSP00000490223.1:p.Leu1668ProfsTer?
ENST00000636058.1:c.315del
ENST00000636389.1:c.5003del	ENSP00000489992.1:p.Leu1668ProfsTer?
ENST00000636473.1:c.161del	ENSP00000490173.1:p.Leu54ProfsTer?
ENST00000636549.1:c.5009del	ENSP00000490578.1:p.Leu1670ProfsTer?
ENST00000637276.1:c.5003del	ENSP00000489777.1:p.Leu1668ProfsTer?
ENST00000637297.1:c.296del	ENSP00000489692.1:p.Leu99ProfsTer?
ENST00000637432.1:c.5018del	ENSP00000490617.1:p.Leu1673ProfsTer?
ENST00000637736.1:c.4862del	ENSP00000489861.1:p.Leu1621ProfsTer?
ENST00000637769.1:c.5003del	ENSP00000489778.1:p.Leu1668ProfsTer?
ENST00000637777.1:c.260del
ENST00000637809.1:n.393del
ENST00000637819.1:c.404del	ENSP00000490686.1:p.Leu135ProfsTer?
ENST00000637927.1:c.5006del	ENSP00000489715.1:p.Leu1669ProfsTer?
ENST00000638009.2:c.5003del	ENSP00000489913.1:p.Leu1668ProfsTer?
ENST00000638029.1:c.5018del	ENSP00000489829.1:p.Leu1673ProfsTer?
ENST00000664864.1:c.5204del	ENSP00000499449.1:p.Leu1735ProfsTer?
ENST00000360228.9:c.5000del	ENSP00000353362.5:p.Leu1667ProfsTer?
ENST00000573710.6:c.5003del	ENSP00000460092.2:p.Leu1668ProfsTer?
ENST00000573891.5:c.419del
ENST00000574822.5:n.224del
ENST00000585802.5:c.1058del	ENSP00000465598.1:p.Leu353ProfsTer?
ENST00000587525.5:c.461del	ENSP00000467729.1:p.Leu154ProfsTer?
ENST00000593267.1:n.205del
ENST00000614285.4:c.5018del	ENSP00000479983.1:p.Leu1673ProfsTer?
NM_000068.3:c.5018del	NP_000059.3:p.Leu1673ProfsTer?
NM_001127221.1:c.5003del , LRG_7t1:c.5003del	NP_001120693.1:p.Leu1668ProfsTer?
NM_001127222.1:c.5000del	NP_001120694.1:p.Leu1667ProfsTer?
NM_001174080.1:c.5009del	NP_001167551.1:p.Leu1670ProfsTer?
NM_023035.2:c.5018del	NP_075461.2:p.Leu1673ProfsTer?
NM_000068.4:c.5018del	NP_000059.3:p.Leu1673ProfsTer?
NM_001127222.2:c.5000del MANE Select	NP_001120694.1:p.Leu1667ProfsTer?
NM_001174080.2:c.5009del	NP_001167551.1:p.Leu1670ProfsTer?
NM_023035.3:c.5018del	NP_075461.2:p.Leu1673ProfsTer?
NM_001127221.2:c.5003del	NP_001120693.1:p.Leu1668ProfsTer?