Canonical Allele Identifier: CA2813672102
Gene: CACNA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13262697_13262698insA , CM000681.2:g.13262697_13262698insA GRCh38
NC_000019.9:g.13373511_13373512insA , CM000681.1:g.13373511_13373512insA GRCh37
NC_000019.8:g.13234511_13234512insA NCBI36
NG_011569.1:g.248763_248764insT , LRG_7:g.248763_248764insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000360228.11:c.4089+36_4089+37insT MANE Select ENSP00000353362.5:n.4089+36_4089+37insT
ENST00000573710.7:c.4095+36_4095+37insT ENSP00000460092.3:n.4095+36_4095+37insT
ENST00000590205.2:n.8_9insT
ENST00000635727.1:c.4092+36_4092+37insT ENSP00000490001.1:n.4092+36_4092+37insT
ENST00000635742.1:n.78+36_78+37insT
ENST00000635895.1:c.4092+36_4092+37insT ENSP00000490323.1:n.4092+36_4092+37insT
ENST00000635917.1:n.581+36_581+37insT
ENST00000636012.1:c.4092+36_4092+37insT ENSP00000490223.1:n.4092+36_4092+37insT
ENST00000636389.1:c.4092+36_4092+37insT ENSP00000489992.1:n.4092+36_4092+37insT
ENST00000636549.1:c.4092+36_4092+37insT ENSP00000490578.1:n.4092+36_4092+37insT
ENST00000636816.1:n.777+36_777+37insT
ENST00000637004.1:n.555+36_555+37insT
ENST00000637276.1:c.4092+36_4092+37insT ENSP00000489777.1:n.4092+36_4092+37insT
ENST00000637432.1:c.4101+36_4101+37insT ENSP00000490617.1:n.4101+36_4101+37insT
ENST00000637692.1:n.411+36_411+37insT
ENST00000637736.1:c.3951+36_3951+37insT ENSP00000489861.1:n.3951+36_3951+37insT
ENST00000637769.1:c.4092+36_4092+37insT ENSP00000489778.1:n.4092+36_4092+37insT
ENST00000637927.1:c.4095+36_4095+37insT ENSP00000489715.1:n.4095+36_4095+37insT
ENST00000638009.2:c.4092+36_4092+37insT ENSP00000489913.1:n.4092+36_4092+37insT
ENST00000638029.1:c.4101+36_4101+37insT ENSP00000489829.1:n.4101+36_4101+37insT
ENST00000664864.1:c.4287+36_4287+37insT ENSP00000499449.1:n.4287+36_4287+37insT
ENST00000360228.9:c.4089+36_4089+37insT ENSP00000353362.5:n.4089+36_4089+37insT
ENST00000573710.6:c.4092+36_4092+37insT ENSP00000460092.2:n.4092+36_4092+37insT
ENST00000585802.5:c.147+36_147+37insT ENSP00000465598.1:n.147+36_147+37insT
ENST00000590205.1:n.168+36_168+37insT
ENST00000614285.4:c.4101+36_4101+37insT ENSP00000479983.1:n.4101+36_4101+37insT
NM_000068.3:c.4101+36_4101+37insT NP_000059.3:n.4101+36_4101+37insT
NM_001127221.1:c.4092+36_4092+37insT , LRG_7t1:c.4092+36_4092+37insT NP_001120693.1:n.4092+36_4092+37insT
NM_001127222.1:c.4089+36_4089+37insT NP_001120694.1:n.4089+36_4089+37insT
NM_001174080.1:c.4092+36_4092+37insT NP_001167551.1:n.4092+36_4092+37insT
NM_023035.2:c.4101+36_4101+37insT NP_075461.2:n.4101+36_4101+37insT
NM_000068.4:c.4101+36_4101+37insT NP_000059.3:n.4101+36_4101+37insT
NM_001127222.2:c.4089+36_4089+37insT MANE Select NP_001120694.1:n.4089+36_4089+37insT
NM_001174080.2:c.4092+36_4092+37insT NP_001167551.1:n.4092+36_4092+37insT
NM_023035.3:c.4101+36_4101+37insT NP_075461.2:n.4101+36_4101+37insT
NM_001127221.2:c.4092+36_4092+37insT NP_001120693.1:n.4092+36_4092+37insT