Canonical Allele Identifier: CA2323795912
Gene: CACNA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13235983_13235984delinsGC , CM000681.2:g.13235983_13235984delinsGC GRCh38
NC_000019.9:g.13346797_13346798delinsGC , CM000681.1:g.13346797_13346798delinsGC GRCh37
NC_000019.8:g.13207797_13207798delinsGC NCBI36
NG_011569.1:g.275477_275478delinsGC , LRG_7:g.275477_275478delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000360228.11:c.4951-254_4951-253delinsGC MANE Select ENSP00000353362.5:n.4951-254_4951-253delinsGC
ENST00000573710.7:c.4957-254_4957-253delinsGC ENSP00000460092.3:n.4957-254_4957-253delinsGC
ENST00000573891.6:c.370-254_370-253delinsGC
ENST00000574822.6:n.175-254_175-253delinsGC
ENST00000585802.6:c.112-254_112-253delinsGC ENSP00000465598.2:n.112-254_112-253delinsGC
ENST00000635727.1:c.4954-254_4954-253delinsGC ENSP00000490001.1:n.4954-254_4954-253delinsGC
ENST00000635742.1:n.940-254_940-253delinsGC
ENST00000635895.1:c.4954-254_4954-253delinsGC ENSP00000490323.1:n.4954-254_4954-253delinsGC
ENST00000636012.1:c.4954-254_4954-253delinsGC ENSP00000490223.1:n.4954-254_4954-253delinsGC
ENST00000636058.1:c.266-254_266-253delinsGC
ENST00000636389.1:c.4954-254_4954-253delinsGC ENSP00000489992.1:n.4954-254_4954-253delinsGC
ENST00000636473.1:c.112-254_112-253delinsGC ENSP00000490173.1:n.112-254_112-253delinsGC
ENST00000636549.1:c.4960-254_4960-253delinsGC ENSP00000490578.1:n.4960-254_4960-253delinsGC
ENST00000637276.1:c.4954-254_4954-253delinsGC ENSP00000489777.1:n.4954-254_4954-253delinsGC
ENST00000637297.1:c.247-254_247-253delinsGC ENSP00000489692.1:n.247-254_247-253delinsGC
ENST00000637432.1:c.4969-254_4969-253delinsGC ENSP00000490617.1:n.4969-254_4969-253delinsGC
ENST00000637736.1:c.4813-254_4813-253delinsGC ENSP00000489861.1:n.4813-254_4813-253delinsGC
ENST00000637769.1:c.4954-254_4954-253delinsGC ENSP00000489778.1:n.4954-254_4954-253delinsGC
ENST00000637777.1:c.211-254_211-253delinsGC
ENST00000637809.1:n.344-254_344-253delinsGC
ENST00000637819.1:c.355-254_355-253delinsGC ENSP00000490686.1:n.355-254_355-253delinsGC
ENST00000637927.1:c.4957-254_4957-253delinsGC ENSP00000489715.1:n.4957-254_4957-253delinsGC
ENST00000638009.2:c.4954-254_4954-253delinsGC ENSP00000489913.1:n.4954-254_4954-253delinsGC
ENST00000638029.1:c.4969-254_4969-253delinsGC ENSP00000489829.1:n.4969-254_4969-253delinsGC
ENST00000664864.1:c.5155-254_5155-253delinsGC ENSP00000499449.1:n.5155-254_5155-253delinsGC
ENST00000360228.9:c.4951-254_4951-253delinsGC ENSP00000353362.5:n.4951-254_4951-253delinsGC
ENST00000573710.6:c.4954-254_4954-253delinsGC ENSP00000460092.2:n.4954-254_4954-253delinsGC
ENST00000573891.5:c.370-254_370-253delinsGC
ENST00000574822.5:n.175-254_175-253delinsGC
ENST00000585802.5:c.1009-254_1009-253delinsGC ENSP00000465598.1:n.1009-254_1009-253delinsGC
ENST00000587525.5:c.412-254_412-253delinsGC ENSP00000467729.1:n.412-254_412-253delinsGC
ENST00000614285.4:c.4969-254_4969-253delinsGC ENSP00000479983.1:n.4969-254_4969-253delinsGC
NM_000068.3:c.4969-254_4969-253delinsGC NP_000059.3:n.4969-254_4969-253delinsGC
NM_001127221.1:c.4954-254_4954-253delinsGC , LRG_7t1:c.4954-254_4954-253delinsGC NP_001120693.1:n.4954-254_4954-253delinsGC
NM_001127222.1:c.4951-254_4951-253delinsGC NP_001120694.1:n.4951-254_4951-253delinsGC
NM_001174080.1:c.4960-254_4960-253delinsGC NP_001167551.1:n.4960-254_4960-253delinsGC
NM_023035.2:c.4969-254_4969-253delinsGC NP_075461.2:n.4969-254_4969-253delinsGC
NM_000068.4:c.4969-254_4969-253delinsGC NP_000059.3:n.4969-254_4969-253delinsGC
NM_001127222.2:c.4951-254_4951-253delinsGC MANE Select NP_001120694.1:n.4951-254_4951-253delinsGC
NM_001174080.2:c.4960-254_4960-253delinsGC NP_001167551.1:n.4960-254_4960-253delinsGC
NM_023035.3:c.4969-254_4969-253delinsGC NP_075461.2:n.4969-254_4969-253delinsGC
NM_001127221.2:c.4954-254_4954-253delinsGC NP_001120693.1:n.4954-254_4954-253delinsGC