Canonical Allele Identifier: CA2323860185

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13371781_13371785delinsTGAAA , CM000681.2:g.13371781_13371785delinsTGAAA	GRCh38
NC_000019.9:g.13482595_13482599delinsTGAAA , CM000681.1:g.13482595_13482599delinsTGAAA	GRCh37
NC_000019.8:g.13343595_13343599delinsTGAAA	NCBI36
NG_011569.1:g.139676_139680delinsTTTCA , LRG_7:g.139676_139680delinsTTTCA

Transcript Alleles

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