Canonical Allele Identifier: CA2582827607

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13262681-CATG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262684_13262686del , CM000681.2:g.13262684_13262686del	GRCh38
NC_000019.9:g.13373498_13373500del , CM000681.1:g.13373498_13373500del	GRCh37
NC_000019.8:g.13234498_13234500del	NCBI36
NG_011569.1:g.248777_248779del , LRG_7:g.248777_248779del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.4089+50_4089+52del MANE Select	ENSP00000353362.5:n.4089+50_4089+52del
ENST00000573710.7:c.4095+50_4095+52del	ENSP00000460092.3:n.4095+50_4095+52del
ENST00000590205.2:n.22_24del
ENST00000635727.1:c.4092+50_4092+52del	ENSP00000490001.1:n.4092+50_4092+52del
ENST00000635742.1:n.78+50_78+52del
ENST00000635895.1:c.4092+50_4092+52del	ENSP00000490323.1:n.4092+50_4092+52del
ENST00000635917.1:n.581+50_581+52del
ENST00000636012.1:c.4092+50_4092+52del	ENSP00000490223.1:n.4092+50_4092+52del
ENST00000636389.1:c.4092+50_4092+52del	ENSP00000489992.1:n.4092+50_4092+52del
ENST00000636549.1:c.4092+50_4092+52del	ENSP00000490578.1:n.4092+50_4092+52del
ENST00000636816.1:n.777+50_777+52del
ENST00000637004.1:n.555+50_555+52del
ENST00000637276.1:c.4092+50_4092+52del	ENSP00000489777.1:n.4092+50_4092+52del
ENST00000637432.1:c.4101+50_4101+52del	ENSP00000490617.1:n.4101+50_4101+52del
ENST00000637692.1:n.411+50_411+52del
ENST00000637736.1:c.3951+50_3951+52del	ENSP00000489861.1:n.3951+50_3951+52del
ENST00000637769.1:c.4092+50_4092+52del	ENSP00000489778.1:n.4092+50_4092+52del
ENST00000637927.1:c.4095+50_4095+52del	ENSP00000489715.1:n.4095+50_4095+52del
ENST00000638009.2:c.4092+50_4092+52del	ENSP00000489913.1:n.4092+50_4092+52del
ENST00000638029.1:c.4101+50_4101+52del	ENSP00000489829.1:n.4101+50_4101+52del
ENST00000664864.1:c.4287+50_4287+52del	ENSP00000499449.1:n.4287+50_4287+52del
ENST00000360228.9:c.4089+50_4089+52del	ENSP00000353362.5:n.4089+50_4089+52del
ENST00000573710.6:c.4092+50_4092+52del	ENSP00000460092.2:n.4092+50_4092+52del
ENST00000585802.5:c.147+50_147+52del	ENSP00000465598.1:n.147+50_147+52del
ENST00000590205.1:n.168+50_168+52del
ENST00000614285.4:c.4101+50_4101+52del	ENSP00000479983.1:n.4101+50_4101+52del
NM_000068.3:c.4101+50_4101+52del	NP_000059.3:n.4101+50_4101+52del
NM_001127221.1:c.4092+50_4092+52del , LRG_7t1:c.4092+50_4092+52del	NP_001120693.1:n.4092+50_4092+52del
NM_001127222.1:c.4089+50_4089+52del	NP_001120694.1:n.4089+50_4089+52del
NM_001174080.1:c.4092+50_4092+52del	NP_001167551.1:n.4092+50_4092+52del
NM_023035.2:c.4101+50_4101+52del	NP_075461.2:n.4101+50_4101+52del
NM_000068.4:c.4101+50_4101+52del	NP_000059.3:n.4101+50_4101+52del
NM_001127222.2:c.4089+50_4089+52del MANE Select	NP_001120694.1:n.4089+50_4089+52del
NM_001174080.2:c.4092+50_4092+52del	NP_001167551.1:n.4092+50_4092+52del
NM_023035.3:c.4101+50_4101+52del	NP_075461.2:n.4101+50_4101+52del
NM_001127221.2:c.4092+50_4092+52del	NP_001120693.1:n.4092+50_4092+52del