Canonical Allele Identifier: CA2813672038
Gene: CACNA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13261854_13261858del , CM000681.2:g.13261854_13261858del GRCh38
NC_000019.9:g.13372668_13372672del , CM000681.1:g.13372668_13372672del GRCh37
NC_000019.8:g.13233668_13233672del NCBI36
NG_011569.1:g.249603_249607del , LRG_7:g.249603_249607del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360228.11:c.4090-248_4090-244del MANE Select ENSP00000353362.5:n.4090-248_4090-244del
ENST00000573710.7:c.4096-248_4096-244del ENSP00000460092.3:n.4096-248_4096-244del
ENST00000590205.2:n.848_852del
ENST00000635727.1:c.4093-248_4093-244del ENSP00000490001.1:n.4093-248_4093-244del
ENST00000635742.1:n.79-248_79-244del
ENST00000635895.1:c.4093-248_4093-244del ENSP00000490323.1:n.4093-248_4093-244del
ENST00000635917.1:n.582-248_582-244del
ENST00000636012.1:c.4093-248_4093-244del ENSP00000490223.1:n.4093-248_4093-244del
ENST00000636389.1:c.4093-248_4093-244del ENSP00000489992.1:n.4093-248_4093-244del
ENST00000636549.1:c.4093-248_4093-244del ENSP00000490578.1:n.4093-248_4093-244del
ENST00000636816.1:n.778-248_778-244del
ENST00000637004.1:n.556-248_556-244del
ENST00000637276.1:c.4093-248_4093-244del ENSP00000489777.1:n.4093-248_4093-244del
ENST00000637432.1:c.4102-248_4102-244del ENSP00000490617.1:n.4102-248_4102-244del
ENST00000637692.1:n.412-248_412-244del
ENST00000637736.1:c.3952-248_3952-244del ENSP00000489861.1:n.3952-248_3952-244del
ENST00000637769.1:c.4093-248_4093-244del ENSP00000489778.1:n.4093-248_4093-244del
ENST00000637927.1:c.4096-248_4096-244del ENSP00000489715.1:n.4096-248_4096-244del
ENST00000638009.2:c.4093-248_4093-244del ENSP00000489913.1:n.4093-248_4093-244del
ENST00000638029.1:c.4102-248_4102-244del ENSP00000489829.1:n.4102-248_4102-244del
ENST00000664864.1:c.4288-248_4288-244del ENSP00000499449.1:n.4288-248_4288-244del
ENST00000360228.9:c.4090-248_4090-244del ENSP00000353362.5:n.4090-248_4090-244del
ENST00000573710.6:c.4093-248_4093-244del ENSP00000460092.2:n.4093-248_4093-244del
ENST00000585802.5:c.148-248_148-244del ENSP00000465598.1:n.148-248_148-244del
ENST00000590205.1:n.169-248_169-244del
ENST00000614285.4:c.4102-248_4102-244del ENSP00000479983.1:n.4102-248_4102-244del
NM_000068.3:c.4102-248_4102-244del NP_000059.3:n.4102-248_4102-244del
NM_001127221.1:c.4093-248_4093-244del , LRG_7t1:c.4093-248_4093-244del NP_001120693.1:n.4093-248_4093-244del
NM_001127222.1:c.4090-248_4090-244del NP_001120694.1:n.4090-248_4090-244del
NM_001174080.1:c.4093-248_4093-244del NP_001167551.1:n.4093-248_4093-244del
NM_023035.2:c.4102-248_4102-244del NP_075461.2:n.4102-248_4102-244del
NM_000068.4:c.4102-248_4102-244del NP_000059.3:n.4102-248_4102-244del
NM_001127222.2:c.4090-248_4090-244del MANE Select NP_001120694.1:n.4090-248_4090-244del
NM_001174080.2:c.4093-248_4093-244del NP_001167551.1:n.4093-248_4093-244del
NM_023035.3:c.4102-248_4102-244del NP_075461.2:n.4102-248_4102-244del
NM_001127221.2:c.4093-248_4093-244del NP_001120693.1:n.4093-248_4093-244del