Canonical Allele Identifier: CA2695228372

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262810_13262812del , CM000681.2:g.13262810_13262812del	GRCh38
NC_000019.9:g.13373624_13373626del , CM000681.1:g.13373624_13373626del	GRCh37
NC_000019.8:g.13234624_13234626del	NCBI36
NG_011569.1:g.248651_248653del , LRG_7:g.248651_248653del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4013_4015del MANE Select	ENSP00000353362.5:p.Ile1338del
ENST00000573710.7:c.4019_4021del	ENSP00000460092.3:p.Ile1340del
ENST00000635727.1:c.4016_4018del	ENSP00000490001.1:p.Ile1339del
ENST00000635895.1:c.4016_4018del	ENSP00000490323.1:p.Ile1339del
ENST00000635917.1:n.505_507del
ENST00000636012.1:c.4016_4018del	ENSP00000490223.1:p.Ile1339del
ENST00000636389.1:c.4016_4018del	ENSP00000489992.1:p.Ile1339del
ENST00000636549.1:c.4016_4018del	ENSP00000490578.1:p.Ile1339del
ENST00000636816.1:n.701_703del
ENST00000637004.1:n.479_481del
ENST00000637276.1:c.4016_4018del	ENSP00000489777.1:p.Ile1339del
ENST00000637432.1:c.4025_4027del	ENSP00000490617.1:p.Ile1342del
ENST00000637692.1:n.335_337del
ENST00000637736.1:c.3875_3877del	ENSP00000489861.1:p.Ile1292del
ENST00000637769.1:c.4016_4018del	ENSP00000489778.1:p.Ile1339del
ENST00000637927.1:c.4019_4021del	ENSP00000489715.1:p.Ile1340del
ENST00000638009.2:c.4016_4018del	ENSP00000489913.1:p.Ile1339del
ENST00000638029.1:c.4025_4027del	ENSP00000489829.1:p.Ile1342del
ENST00000664864.1:c.4211_4213del	ENSP00000499449.1:p.Ile1404del
ENST00000360228.9:c.4013_4015del	ENSP00000353362.5:p.Ile1338del
ENST00000573710.6:c.4016_4018del	ENSP00000460092.2:p.Ile1339del
ENST00000585802.5:c.71_73del	ENSP00000465598.1:p.Ile24del
ENST00000590205.1:n.92_94del
ENST00000614285.4:c.4025_4027del	ENSP00000479983.1:p.Ile1342del
NM_000068.3:c.4025_4027del	NP_000059.3:p.Ile1342del
NM_001127221.1:c.4016_4018del , LRG_7t1:c.4016_4018del	NP_001120693.1:p.Ile1339del
NM_001127222.1:c.4013_4015del	NP_001120694.1:p.Ile1338del
NM_001174080.1:c.4016_4018del	NP_001167551.1:p.Ile1339del
NM_023035.2:c.4025_4027del	NP_075461.2:p.Ile1342del
NM_000068.4:c.4025_4027del	NP_000059.3:p.Ile1342del
NM_001127222.2:c.4013_4015del MANE Select	NP_001120694.1:p.Ile1338del
NM_001174080.2:c.4016_4018del	NP_001167551.1:p.Ile1339del
NM_023035.3:c.4025_4027del	NP_075461.2:p.Ile1342del
NM_001127221.2:c.4016_4018del	NP_001120693.1:p.Ile1339del