Canonical Allele Identifier: CA783418534

Gene: CACNA1A

Linked Data

• dbSNP Id: rs150485785
• gnomAD v3: 19-13262293-A-AAG
• gnomAD v4: 19-13262293-A-AAG
• MyVariant Identifiers: chr19:g.13373107_13373108insAG (hg19) ; chr19:g.13262293_13262294insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262294_13262295insGA , CM000681.2:g.13262294_13262295insGA	GRCh38
NC_000019.9:g.13373108_13373109insGA , CM000681.1:g.13373108_13373109insGA	GRCh37
NC_000019.8:g.13234108_13234109insGA	NCBI36
NG_011569.1:g.249167_249168insCT , LRG_7:g.249167_249168insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4089+440_4089+441insCT MANE Select	ENSP00000353362.5:n.4089+440_4089+441insCT
ENST00000573710.7:c.4095+440_4095+441insCT	ENSP00000460092.3:n.4095+440_4095+441insCT
ENST00000590205.2:n.412_413insCT
ENST00000635727.1:c.4092+440_4092+441insCT	ENSP00000490001.1:n.4092+440_4092+441insCT
ENST00000635742.1:n.78+440_78+441insCT
ENST00000635895.1:c.4092+440_4092+441insCT	ENSP00000490323.1:n.4092+440_4092+441insCT
ENST00000635917.1:n.581+440_581+441insCT
ENST00000636012.1:c.4092+440_4092+441insCT	ENSP00000490223.1:n.4092+440_4092+441insCT
ENST00000636389.1:c.4092+440_4092+441insCT	ENSP00000489992.1:n.4092+440_4092+441insCT
ENST00000636549.1:c.4092+440_4092+441insCT	ENSP00000490578.1:n.4092+440_4092+441insCT
ENST00000636816.1:n.777+440_777+441insCT
ENST00000637004.1:n.555+440_555+441insCT
ENST00000637276.1:c.4092+440_4092+441insCT	ENSP00000489777.1:n.4092+440_4092+441insCT
ENST00000637432.1:c.4101+440_4101+441insCT	ENSP00000490617.1:n.4101+440_4101+441insCT
ENST00000637692.1:n.411+440_411+441insCT
ENST00000637736.1:c.3951+440_3951+441insCT	ENSP00000489861.1:n.3951+440_3951+441insCT
ENST00000637769.1:c.4092+440_4092+441insCT	ENSP00000489778.1:n.4092+440_4092+441insCT
ENST00000637927.1:c.4095+440_4095+441insCT	ENSP00000489715.1:n.4095+440_4095+441insCT
ENST00000638009.2:c.4092+440_4092+441insCT	ENSP00000489913.1:n.4092+440_4092+441insCT
ENST00000638029.1:c.4101+440_4101+441insCT	ENSP00000489829.1:n.4101+440_4101+441insCT
ENST00000664864.1:c.4287+440_4287+441insCT	ENSP00000499449.1:n.4287+440_4287+441insCT
ENST00000360228.9:c.4089+440_4089+441insCT	ENSP00000353362.5:n.4089+440_4089+441insCT
ENST00000573710.6:c.4092+440_4092+441insCT	ENSP00000460092.2:n.4092+440_4092+441insCT
ENST00000585802.5:c.147+440_147+441insCT	ENSP00000465598.1:n.147+440_147+441insCT
ENST00000590205.1:n.168+440_168+441insCT
ENST00000614285.4:c.4101+440_4101+441insCT	ENSP00000479983.1:n.4101+440_4101+441insCT
NM_000068.3:c.4101+440_4101+441insCT	NP_000059.3:n.4101+440_4101+441insCT
NM_001127221.1:c.4092+440_4092+441insCT , LRG_7t1:c.4092+440_4092+441insCT	NP_001120693.1:n.4092+440_4092+441insCT
NM_001127222.1:c.4089+440_4089+441insCT	NP_001120694.1:n.4089+440_4089+441insCT
NM_001174080.1:c.4092+440_4092+441insCT	NP_001167551.1:n.4092+440_4092+441insCT
NM_023035.2:c.4101+440_4101+441insCT	NP_075461.2:n.4101+440_4101+441insCT
NM_000068.4:c.4101+440_4101+441insCT	NP_000059.3:n.4101+440_4101+441insCT
NM_001127222.2:c.4089+440_4089+441insCT MANE Select	NP_001120694.1:n.4089+440_4089+441insCT
NM_001174080.2:c.4092+440_4092+441insCT	NP_001167551.1:n.4092+440_4092+441insCT
NM_023035.3:c.4101+440_4101+441insCT	NP_075461.2:n.4101+440_4101+441insCT
NM_001127221.2:c.4092+440_4092+441insCT	NP_001120693.1:n.4092+440_4092+441insCT