Canonical Allele Identifier: CA2838032531

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262759del , CM000681.2:g.13262759del	GRCh38
NC_000019.9:g.13373573del , CM000681.1:g.13373573del	GRCh37
NC_000019.8:g.13234573del	NCBI36
NG_011569.1:g.248703del , LRG_7:g.248703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4065del MANE Select	ENSP00000353362.5:p.Ile1356SerfsTer15
ENST00000573710.7:c.4071del	ENSP00000460092.3:p.Ile1358SerfsTer15
ENST00000635727.1:c.4068del	ENSP00000490001.1:p.Ile1357SerfsTer15
ENST00000635742.1:n.54del
ENST00000635895.1:c.4068del	ENSP00000490323.1:p.Ile1357SerfsTer15
ENST00000635917.1:n.557del
ENST00000636012.1:c.4068del	ENSP00000490223.1:p.Ile1357SerfsTer15
ENST00000636389.1:c.4068del	ENSP00000489992.1:p.Ile1357SerfsTer15
ENST00000636549.1:c.4068del	ENSP00000490578.1:p.Ile1357SerfsTer15
ENST00000636816.1:n.753del
ENST00000637004.1:n.531del
ENST00000637276.1:c.4068del	ENSP00000489777.1:p.Ile1357SerfsTer15
ENST00000637432.1:c.4077del	ENSP00000490617.1:p.Ile1360SerfsTer15
ENST00000637692.1:n.387del
ENST00000637736.1:c.3927del	ENSP00000489861.1:p.Ile1310SerfsTer15
ENST00000637769.1:c.4068del	ENSP00000489778.1:p.Ile1357SerfsTer15
ENST00000637927.1:c.4071del	ENSP00000489715.1:p.Ile1358SerfsTer15
ENST00000638009.2:c.4068del	ENSP00000489913.1:p.Ile1357SerfsTer15
ENST00000638029.1:c.4077del	ENSP00000489829.1:p.Ile1360SerfsTer15
ENST00000664864.1:c.4263del	ENSP00000499449.1:p.Ile1422SerfsTer15
ENST00000360228.9:c.4065del	ENSP00000353362.5:p.Ile1356SerfsTer15
ENST00000573710.6:c.4068del	ENSP00000460092.2:p.Ile1357SerfsTer15
ENST00000585802.5:c.123del	ENSP00000465598.1:p.Ile42SerfsTer15
ENST00000590205.1:n.144del
ENST00000614285.4:c.4077del	ENSP00000479983.1:p.Ile1360SerfsTer15
NM_000068.3:c.4077del	NP_000059.3:p.Ile1360SerfsTer15
NM_001127221.1:c.4068del , LRG_7t1:c.4068del	NP_001120693.1:p.Ile1357SerfsTer15
NM_001127222.1:c.4065del	NP_001120694.1:p.Ile1356SerfsTer15
NM_001174080.1:c.4068del	NP_001167551.1:p.Ile1357SerfsTer15
NM_023035.2:c.4077del	NP_075461.2:p.Ile1360SerfsTer15
NM_000068.4:c.4077del	NP_000059.3:p.Ile1360SerfsTer15
NM_001127222.2:c.4065del MANE Select	NP_001120694.1:p.Ile1356SerfsTer15
NM_001174080.2:c.4068del	NP_001167551.1:p.Ile1357SerfsTer15
NM_023035.3:c.4077del	NP_075461.2:p.Ile1360SerfsTer15
NM_001127221.2:c.4068del	NP_001120693.1:p.Ile1357SerfsTer15