Canonical Allele Identifier: CA2323808880

Gene: CACNA1A

Linked Data

• dbSNP Id: rs2056760756
• gnomAD v4: 19-13262586-GTAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262592_13262594del , CM000681.2:g.13262592_13262594del	GRCh38
NC_000019.9:g.13373406_13373408del , CM000681.1:g.13373406_13373408del	GRCh37
NC_000019.8:g.13234406_13234408del	NCBI36
NG_011569.1:g.248872_248874del , LRG_7:g.248872_248874del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4089+145_4089+147del MANE Select	ENSP00000353362.5:n.4089+145_4089+147del
ENST00000573710.7:c.4095+145_4095+147del	ENSP00000460092.3:n.4095+145_4095+147del
ENST00000590205.2:n.117_119del
ENST00000635727.1:c.4092+145_4092+147del	ENSP00000490001.1:n.4092+145_4092+147del
ENST00000635742.1:n.78+145_78+147del
ENST00000635895.1:c.4092+145_4092+147del	ENSP00000490323.1:n.4092+145_4092+147del
ENST00000635917.1:n.581+145_581+147del
ENST00000636012.1:c.4092+145_4092+147del	ENSP00000490223.1:n.4092+145_4092+147del
ENST00000636389.1:c.4092+145_4092+147del	ENSP00000489992.1:n.4092+145_4092+147del
ENST00000636549.1:c.4092+145_4092+147del	ENSP00000490578.1:n.4092+145_4092+147del
ENST00000636816.1:n.777+145_777+147del
ENST00000637004.1:n.555+145_555+147del
ENST00000637276.1:c.4092+145_4092+147del	ENSP00000489777.1:n.4092+145_4092+147del
ENST00000637432.1:c.4101+145_4101+147del	ENSP00000490617.1:n.4101+145_4101+147del
ENST00000637692.1:n.411+145_411+147del
ENST00000637736.1:c.3951+145_3951+147del	ENSP00000489861.1:n.3951+145_3951+147del
ENST00000637769.1:c.4092+145_4092+147del	ENSP00000489778.1:n.4092+145_4092+147del
ENST00000637927.1:c.4095+145_4095+147del	ENSP00000489715.1:n.4095+145_4095+147del
ENST00000638009.2:c.4092+145_4092+147del	ENSP00000489913.1:n.4092+145_4092+147del
ENST00000638029.1:c.4101+145_4101+147del	ENSP00000489829.1:n.4101+145_4101+147del
ENST00000664864.1:c.4287+145_4287+147del	ENSP00000499449.1:n.4287+145_4287+147del
ENST00000360228.9:c.4089+145_4089+147del	ENSP00000353362.5:n.4089+145_4089+147del
ENST00000573710.6:c.4092+145_4092+147del	ENSP00000460092.2:n.4092+145_4092+147del
ENST00000585802.5:c.147+145_147+147del	ENSP00000465598.1:n.147+145_147+147del
ENST00000590205.1:n.168+145_168+147del
ENST00000614285.4:c.4101+145_4101+147del	ENSP00000479983.1:n.4101+145_4101+147del
NM_000068.3:c.4101+145_4101+147del	NP_000059.3:n.4101+145_4101+147del
NM_001127221.1:c.4092+145_4092+147del , LRG_7t1:c.4092+145_4092+147del	NP_001120693.1:n.4092+145_4092+147del
NM_001127222.1:c.4089+145_4089+147del	NP_001120694.1:n.4089+145_4089+147del
NM_001174080.1:c.4092+145_4092+147del	NP_001167551.1:n.4092+145_4092+147del
NM_023035.2:c.4101+145_4101+147del	NP_075461.2:n.4101+145_4101+147del
NM_000068.4:c.4101+145_4101+147del	NP_000059.3:n.4101+145_4101+147del
NM_001127222.2:c.4089+145_4089+147del MANE Select	NP_001120694.1:n.4089+145_4089+147del
NM_001174080.2:c.4092+145_4092+147del	NP_001167551.1:n.4092+145_4092+147del
NM_023035.3:c.4101+145_4101+147del	NP_075461.2:n.4101+145_4101+147del
NM_001127221.2:c.4092+145_4092+147del	NP_001120693.1:n.4092+145_4092+147del