Canonical Allele Identifier: CA2582827475

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13262552-GTCAGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262556_13262560del , CM000681.2:g.13262556_13262560del	GRCh38
NC_000019.9:g.13373370_13373374del , CM000681.1:g.13373370_13373374del	GRCh37
NC_000019.8:g.13234370_13234374del	NCBI36
NG_011569.1:g.248904_248908del , LRG_7:g.248904_248908del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4089+177_4089+181del MANE Select	ENSP00000353362.5:n.4089+177_4089+181del
ENST00000573710.7:c.4095+177_4095+181del	ENSP00000460092.3:n.4095+177_4095+181del
ENST00000590205.2:n.149_153del
ENST00000635727.1:c.4092+177_4092+181del	ENSP00000490001.1:n.4092+177_4092+181del
ENST00000635742.1:n.78+177_78+181del
ENST00000635895.1:c.4092+177_4092+181del	ENSP00000490323.1:n.4092+177_4092+181del
ENST00000635917.1:n.581+177_581+181del
ENST00000636012.1:c.4092+177_4092+181del	ENSP00000490223.1:n.4092+177_4092+181del
ENST00000636389.1:c.4092+177_4092+181del	ENSP00000489992.1:n.4092+177_4092+181del
ENST00000636549.1:c.4092+177_4092+181del	ENSP00000490578.1:n.4092+177_4092+181del
ENST00000636816.1:n.777+177_777+181del
ENST00000637004.1:n.555+177_555+181del
ENST00000637276.1:c.4092+177_4092+181del	ENSP00000489777.1:n.4092+177_4092+181del
ENST00000637432.1:c.4101+177_4101+181del	ENSP00000490617.1:n.4101+177_4101+181del
ENST00000637692.1:n.411+177_411+181del
ENST00000637736.1:c.3951+177_3951+181del	ENSP00000489861.1:n.3951+177_3951+181del
ENST00000637769.1:c.4092+177_4092+181del	ENSP00000489778.1:n.4092+177_4092+181del
ENST00000637927.1:c.4095+177_4095+181del	ENSP00000489715.1:n.4095+177_4095+181del
ENST00000638009.2:c.4092+177_4092+181del	ENSP00000489913.1:n.4092+177_4092+181del
ENST00000638029.1:c.4101+177_4101+181del	ENSP00000489829.1:n.4101+177_4101+181del
ENST00000664864.1:c.4287+177_4287+181del	ENSP00000499449.1:n.4287+177_4287+181del
ENST00000360228.9:c.4089+177_4089+181del	ENSP00000353362.5:n.4089+177_4089+181del
ENST00000573710.6:c.4092+177_4092+181del	ENSP00000460092.2:n.4092+177_4092+181del
ENST00000585802.5:c.147+177_147+181del	ENSP00000465598.1:n.147+177_147+181del
ENST00000590205.1:n.168+177_168+181del
ENST00000614285.4:c.4101+177_4101+181del	ENSP00000479983.1:n.4101+177_4101+181del
NM_000068.3:c.4101+177_4101+181del	NP_000059.3:n.4101+177_4101+181del
NM_001127221.1:c.4092+177_4092+181del , LRG_7t1:c.4092+177_4092+181del	NP_001120693.1:n.4092+177_4092+181del
NM_001127222.1:c.4089+177_4089+181del	NP_001120694.1:n.4089+177_4089+181del
NM_001174080.1:c.4092+177_4092+181del	NP_001167551.1:n.4092+177_4092+181del
NM_023035.2:c.4101+177_4101+181del	NP_075461.2:n.4101+177_4101+181del
NM_000068.4:c.4101+177_4101+181del	NP_000059.3:n.4101+177_4101+181del
NM_001127222.2:c.4089+177_4089+181del MANE Select	NP_001120694.1:n.4089+177_4089+181del
NM_001174080.2:c.4092+177_4092+181del	NP_001167551.1:n.4092+177_4092+181del
NM_023035.3:c.4101+177_4101+181del	NP_075461.2:n.4101+177_4101+181del
NM_001127221.2:c.4092+177_4092+181del	NP_001120693.1:n.4092+177_4092+181del