Canonical Allele Identifier: CA2323860195

Gene: CACNA1A

Linked Data

• dbSNP Id: rs2059327614

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13371802_13371804del , CM000681.2:g.13371802_13371804del	GRCh38
NC_000019.9:g.13482616_13482618del , CM000681.1:g.13482616_13482618del	GRCh37
NC_000019.8:g.13343616_13343618del	NCBI36
NG_011569.1:g.139658_139660del , LRG_7:g.139658_139660del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.540-24_540-22del MANE Select	ENSP00000353362.5:n.540-24_540-22del
ENST00000573710.7:c.540-24_540-22del	ENSP00000460092.3:n.540-24_540-22del
ENST00000574974.3:c.*172-24_*172-22del	ENSP00000459963.2:n.*172-24_*172-22del
ENST00000593160.2:n.255-24_255-22del
ENST00000635727.1:c.540-24_540-22del	ENSP00000490001.1:n.540-24_540-22del
ENST00000635895.1:c.540-24_540-22del	ENSP00000490323.1:n.540-24_540-22del
ENST00000636012.1:c.540-24_540-22del	ENSP00000490223.1:n.540-24_540-22del
ENST00000636389.1:c.540-24_540-22del	ENSP00000489992.1:n.540-24_540-22del
ENST00000636549.1:c.540-24_540-22del	ENSP00000490578.1:n.540-24_540-22del
ENST00000636966.1:n.428-24_428-22del
ENST00000637276.1:c.540-24_540-22del	ENSP00000489777.1:n.540-24_540-22del
ENST00000637432.1:c.540-24_540-22del	ENSP00000490617.1:n.540-24_540-22del
ENST00000637736.1:c.399-24_399-22del	ENSP00000489861.1:n.399-24_399-22del
ENST00000637769.1:c.540-24_540-22del	ENSP00000489778.1:n.540-24_540-22del
ENST00000637927.1:c.540-24_540-22del	ENSP00000489715.1:n.540-24_540-22del
ENST00000637966.1:n.393-24_393-22del
ENST00000637981.1:n.358-24_358-22del
ENST00000638009.2:c.540-24_540-22del	ENSP00000489913.1:n.540-24_540-22del
ENST00000638029.1:c.540-24_540-22del	ENSP00000489829.1:n.540-24_540-22del
ENST00000664864.1:c.735-24_735-22del	ENSP00000499449.1:n.735-24_735-22del
ENST00000360228.9:c.540-24_540-22del	ENSP00000353362.5:n.540-24_540-22del
ENST00000573710.6:c.540-24_540-22del	ENSP00000460092.2:n.540-24_540-22del
ENST00000574974.1:c.291-24_291-22del	ENSP00000459963.1:n.291-24_291-22del
ENST00000614285.4:c.540-24_540-22del	ENSP00000479983.1:n.540-24_540-22del
NM_000068.3:c.540-24_540-22del	NP_000059.3:n.540-24_540-22del
NM_001127221.1:c.540-24_540-22del , LRG_7t1:c.540-24_540-22del	NP_001120693.1:n.540-24_540-22del
NM_001127222.1:c.540-24_540-22del	NP_001120694.1:n.540-24_540-22del
NM_001174080.1:c.540-24_540-22del	NP_001167551.1:n.540-24_540-22del
NM_023035.2:c.540-24_540-22del	NP_075461.2:n.540-24_540-22del
NM_000068.4:c.540-24_540-22del	NP_000059.3:n.540-24_540-22del
NM_001127222.2:c.540-24_540-22del MANE Select	NP_001120694.1:n.540-24_540-22del
NM_001174080.2:c.540-24_540-22del	NP_001167551.1:n.540-24_540-22del
NM_023035.3:c.540-24_540-22del	NP_075461.2:n.540-24_540-22del
NM_001127221.2:c.540-24_540-22del	NP_001120693.1:n.540-24_540-22del