Canonical Allele Identifier: CA9240957

Gene: CACNA1A

Linked Data

• dbSNP Id: rs768786965
• ExAC: 19:13470587 G / GAATTGCACGCA
• MyVariant Identifiers: chr19:g.13470587_13470588insAATTGCACGCA (hg19) ; chr19:g.13359773_13359774insAATTGCACGCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13359774_13359775insATTGCACGCAA , CM000681.2:g.13359774_13359775insATTGCACGCAA	GRCh38
NC_000019.9:g.13470588_13470589insATTGCACGCAA , CM000681.1:g.13470588_13470589insATTGCACGCAA	GRCh37
NC_000019.8:g.13331588_13331589insATTGCACGCAA	NCBI36
NG_011569.1:g.151687_151688insTGCGTGCAATT , LRG_7:g.151687_151688insTGCGTGCAATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.810_811insTGCGTGCAATT MANE Select	ENSP00000353362.5:p.Pro271CysfsTer?
ENST00000573710.7:c.810_811insTGCGTGCAATT	ENSP00000460092.3:p.Pro271CysfsTer?
ENST00000593160.2:n.525_526insTGCGTGCAATT
ENST00000635727.1:c.810_811insTGCGTGCAATT	ENSP00000490001.1:p.Pro271CysfsTer?
ENST00000635895.1:c.810_811insTGCGTGCAATT	ENSP00000490323.1:p.Pro271CysfsTer?
ENST00000636012.1:c.810_811insTGCGTGCAATT	ENSP00000490223.1:p.Pro271CysfsTer?
ENST00000636389.1:c.810_811insTGCGTGCAATT	ENSP00000489992.1:p.Pro271CysfsTer?
ENST00000636549.1:c.810_811insTGCGTGCAATT	ENSP00000490578.1:p.Pro271CysfsTer?
ENST00000636974.1:n.169_170insTGCGTGCAATT
ENST00000637276.1:c.810_811insTGCGTGCAATT	ENSP00000489777.1:p.Pro271CysfsTer?
ENST00000637432.1:c.810_811insTGCGTGCAATT	ENSP00000490617.1:p.Pro271CysfsTer?
ENST00000637736.1:c.669_670insTGCGTGCAATT	ENSP00000489861.1:p.Pro224CysfsTer?
ENST00000637769.1:c.810_811insTGCGTGCAATT	ENSP00000489778.1:p.Pro271CysfsTer?
ENST00000637927.1:c.810_811insTGCGTGCAATT	ENSP00000489715.1:p.Pro271CysfsTer?
ENST00000637966.1:n.663_664insTGCGTGCAATT
ENST00000638009.2:c.810_811insTGCGTGCAATT	ENSP00000489913.1:p.Pro271CysfsTer?
ENST00000638029.1:c.810_811insTGCGTGCAATT	ENSP00000489829.1:p.Pro271CysfsTer?
ENST00000664864.1:c.1005_1006insTGCGTGCAATT	ENSP00000499449.1:p.Pro336CysfsTer?
ENST00000360228.9:c.810_811insTGCGTGCAATT	ENSP00000353362.5:p.Pro271CysfsTer?
ENST00000573710.6:c.810_811insTGCGTGCAATT	ENSP00000460092.2:p.Pro271CysfsTer?
ENST00000593160.1:n.30_31insTGCGTGCAATT
ENST00000614285.4:c.810_811insTGCGTGCAATT	ENSP00000479983.1:p.Pro271CysfsTer?
NM_000068.3:c.810_811insTGCGTGCAATT	NP_000059.3:p.Pro271CysfsTer?
NM_001127221.1:c.810_811insTGCGTGCAATT , LRG_7t1:c.810_811insTGCGTGCAATT	NP_001120693.1:p.Pro271CysfsTer?
NM_001127222.1:c.810_811insTGCGTGCAATT	NP_001120694.1:p.Pro271CysfsTer?
NM_001174080.1:c.810_811insTGCGTGCAATT	NP_001167551.1:p.Pro271CysfsTer?
NM_023035.2:c.810_811insTGCGTGCAATT	NP_075461.2:p.Pro271CysfsTer?
NM_000068.4:c.810_811insTGCGTGCAATT	NP_000059.3:p.Pro271CysfsTer?
NM_001127222.2:c.810_811insTGCGTGCAATT MANE Select	NP_001120694.1:p.Pro271CysfsTer?
NM_001174080.2:c.810_811insTGCGTGCAATT	NP_001167551.1:p.Pro271CysfsTer?
NM_023035.3:c.810_811insTGCGTGCAATT	NP_075461.2:p.Pro271CysfsTer?
NM_001127221.2:c.810_811insTGCGTGCAATT	NP_001120693.1:p.Pro271CysfsTer?