Canonical Allele Identifier: CA2576643079

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 1806843
• ClinVar RCV Id: RCV002474272
• gnomAD v4: 19-13359611-AGAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13359615_13359617del , CM000681.2:g.13359615_13359617del	GRCh38
NC_000019.9:g.13470429_13470431del , CM000681.1:g.13470429_13470431del	GRCh37
NC_000019.8:g.13331429_13331431del	NCBI36
NG_011569.1:g.151847_151849del , LRG_7:g.151847_151849del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.970_972del MANE Select	ENSP00000353362.5:p.Leu324del
ENST00000573710.7:c.970_972del	ENSP00000460092.3:p.Leu324del
ENST00000593160.2:n.685_687del
ENST00000635727.1:c.970_972del	ENSP00000490001.1:p.Leu324del
ENST00000635895.1:c.970_972del	ENSP00000490323.1:p.Leu324del
ENST00000636012.1:c.970_972del	ENSP00000490223.1:p.Leu324del
ENST00000636389.1:c.970_972del	ENSP00000489992.1:p.Leu324del
ENST00000636549.1:c.970_972del	ENSP00000490578.1:p.Leu324del
ENST00000636974.1:n.329_331del
ENST00000637276.1:c.970_972del	ENSP00000489777.1:p.Leu324del
ENST00000637432.1:c.970_972del	ENSP00000490617.1:p.Leu324del
ENST00000637736.1:c.829_831del	ENSP00000489861.1:p.Leu277del
ENST00000637769.1:c.970_972del	ENSP00000489778.1:p.Leu324del
ENST00000637927.1:c.970_972del	ENSP00000489715.1:p.Leu324del
ENST00000637966.1:n.823_825del
ENST00000638009.2:c.970_972del	ENSP00000489913.1:p.Leu324del
ENST00000638029.1:c.970_972del	ENSP00000489829.1:p.Leu324del
ENST00000664864.1:c.1165_1167del	ENSP00000499449.1:p.Leu389del
ENST00000360228.9:c.970_972del	ENSP00000353362.5:p.Leu324del
ENST00000573710.6:c.970_972del	ENSP00000460092.2:p.Leu324del
ENST00000593160.1:n.190_192del
ENST00000614285.4:c.970_972del	ENSP00000479983.1:p.Leu324del
NM_000068.3:c.970_972del	NP_000059.3:p.Leu324del
NM_001127221.1:c.970_972del , LRG_7t1:c.970_972del	NP_001120693.1:p.Leu324del
NM_001127222.1:c.970_972del	NP_001120694.1:p.Leu324del
NM_001174080.1:c.970_972del	NP_001167551.1:p.Leu324del
NM_023035.2:c.970_972del	NP_075461.2:p.Leu324del
NM_000068.4:c.970_972del	NP_000059.3:p.Leu324del
NM_001127222.2:c.970_972del MANE Select	NP_001120694.1:p.Leu324del
NM_001174080.2:c.970_972del	NP_001167551.1:p.Leu324del
NM_023035.3:c.970_972del	NP_075461.2:p.Leu324del
NM_001127221.2:c.970_972del	NP_001120693.1:p.Leu324del