Canonical Allele Identifier: CA2837994987
Gene: CACNA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13261449_13261455del , CM000681.2:g.13261449_13261455del GRCh38
NC_000019.9:g.13372263_13372269del , CM000681.1:g.13372263_13372269del GRCh37
NC_000019.8:g.13233263_13233269del NCBI36
NG_011569.1:g.250007_250013del , LRG_7:g.250007_250013del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360228.11:c.4246_4250+2del
ENST00000573710.7:c.4252_4256+2del
ENST00000590205.2:n.1252_1258del
ENST00000635727.1:c.4249_4253+2del
ENST00000635742.1:n.235_239+2del
ENST00000635895.1:c.4249_4253+2del
ENST00000635917.1:n.738_742+2del
ENST00000636012.1:c.4249_4253+2del
ENST00000636389.1:c.4249_4253+2del
ENST00000636549.1:c.4249_4253+2del
ENST00000636816.1:n.934_938+2del
ENST00000637004.1:n.712_716+2del
ENST00000637276.1:c.4249_4253+2del
ENST00000637432.1:c.4258_4262+2del
ENST00000637692.1:n.568_572+2del
ENST00000637736.1:c.4108_4112+2del
ENST00000637769.1:c.4249_4253+2del
ENST00000637927.1:c.4252_4256+2del
ENST00000638009.2:c.4249_4253+2del
ENST00000638029.1:c.4258_4262+2del
ENST00000664864.1:c.4444_4448+2del
ENST00000360228.9:c.4246_4250+2del
ENST00000573710.6:c.4249_4253+2del
ENST00000585802.5:c.304_308+2del
ENST00000614285.4:c.4258_4262+2del
NM_000068.3:c.4258_4262+2del
NM_001127221.1:c.4249_4253+2del , LRG_7t1:c.4249_4253+2del
NM_001127222.1:c.4246_4250+2del
NM_001174080.1:c.4249_4253+2del
NM_023035.2:c.4258_4262+2del
NM_000068.4:c.4258_4262+2del
NM_001127222.2:c.4246_4250+2del
NM_001174080.2:c.4249_4253+2del
NM_023035.3:c.4258_4262+2del
NM_001127221.2:c.4249_4253+2del