Canonical Allele Identifier: CA783430373

Gene: CACNA1A

Linked Data

• dbSNP Id: rs1208469377
• gnomAD v3: 19-13235386-G-GCC
• gnomAD v4: 19-13235386-G-GCC
• MyVariant Identifiers: chr19:g.13346200_13346201insCC (hg19) ; chr19:g.13235386_13235387insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235387_13235388dup , CM000681.2:g.13235387_13235388dup	GRCh38
NC_000019.9:g.13346201_13346202dup , CM000681.1:g.13346201_13346202dup	GRCh37
NC_000019.8:g.13207201_13207202dup	NCBI36
NG_011569.1:g.276073_276074dup , LRG_7:g.276073_276074dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5068-114_5068-113dup MANE Select	ENSP00000353362.5:n.5068-114_5068-113dup
ENST00000573710.7:c.5074-114_5074-113dup	ENSP00000460092.3:n.5074-114_5074-113dup
ENST00000573891.6:c.487-114_487-113dup
ENST00000574822.6:n.292-114_292-113dup
ENST00000585802.6:c.229-114_229-113dup	ENSP00000465598.2:n.229-114_229-113dup
ENST00000593267.2:n.273-114_273-113dup
ENST00000635727.1:c.5071-114_5071-113dup	ENSP00000490001.1:n.5071-114_5071-113dup
ENST00000635742.1:n.1057-114_1057-113dup
ENST00000635895.1:c.5071-114_5071-113dup	ENSP00000490323.1:n.5071-114_5071-113dup
ENST00000636012.1:c.5071-114_5071-113dup	ENSP00000490223.1:n.5071-114_5071-113dup
ENST00000636058.1:c.383-114_383-113dup
ENST00000636389.1:c.5071-114_5071-113dup	ENSP00000489992.1:n.5071-114_5071-113dup
ENST00000636473.1:c.228+226_228+227dup	ENSP00000490173.1:n.228+226_228+227dup
ENST00000636549.1:c.5077-114_5077-113dup	ENSP00000490578.1:n.5077-114_5077-113dup
ENST00000637276.1:c.5071-114_5071-113dup	ENSP00000489777.1:n.5071-114_5071-113dup
ENST00000637297.1:c.364-114_364-113dup	ENSP00000489692.1:n.364-114_364-113dup
ENST00000637432.1:c.5086-114_5086-113dup	ENSP00000490617.1:n.5086-114_5086-113dup
ENST00000637736.1:c.4930-114_4930-113dup	ENSP00000489861.1:n.4930-114_4930-113dup
ENST00000637769.1:c.5071-114_5071-113dup	ENSP00000489778.1:n.5071-114_5071-113dup
ENST00000637777.1:c.327+226_327+227dup
ENST00000637809.1:n.461-114_461-113dup
ENST00000637819.1:c.472-114_472-113dup	ENSP00000490686.1:n.472-114_472-113dup
ENST00000637832.1:n.62-114_62-113dup
ENST00000637927.1:c.5074-114_5074-113dup	ENSP00000489715.1:n.5074-114_5074-113dup
ENST00000638009.2:c.5071-114_5071-113dup	ENSP00000489913.1:n.5071-114_5071-113dup
ENST00000638029.1:c.5086-114_5086-113dup	ENSP00000489829.1:n.5086-114_5086-113dup
ENST00000664864.1:c.5272-114_5272-113dup	ENSP00000499449.1:n.5272-114_5272-113dup
ENST00000360228.9:c.5068-114_5068-113dup	ENSP00000353362.5:n.5068-114_5068-113dup
ENST00000573710.6:c.5071-114_5071-113dup	ENSP00000460092.2:n.5071-114_5071-113dup
ENST00000573891.5:c.487-114_487-113dup
ENST00000574822.5:n.292-114_292-113dup
ENST00000585802.5:c.1126-114_1126-113dup	ENSP00000465598.1:n.1126-114_1126-113dup
ENST00000587525.5:c.529-114_529-113dup	ENSP00000467729.1:n.529-114_529-113dup
ENST00000593267.1:n.273-114_273-113dup
ENST00000614285.4:c.5086-114_5086-113dup	ENSP00000479983.1:n.5086-114_5086-113dup
NM_000068.3:c.5086-114_5086-113dup	NP_000059.3:n.5086-114_5086-113dup
NM_001127221.1:c.5071-114_5071-113dup , LRG_7t1:c.5071-114_5071-113dup	NP_001120693.1:n.5071-114_5071-113dup
NM_001127222.1:c.5068-114_5068-113dup	NP_001120694.1:n.5068-114_5068-113dup
NM_001174080.1:c.5077-114_5077-113dup	NP_001167551.1:n.5077-114_5077-113dup
NM_023035.2:c.5086-114_5086-113dup	NP_075461.2:n.5086-114_5086-113dup
NM_000068.4:c.5086-114_5086-113dup	NP_000059.3:n.5086-114_5086-113dup
NM_001127222.2:c.5068-114_5068-113dup MANE Select	NP_001120694.1:n.5068-114_5068-113dup
NM_001174080.2:c.5077-114_5077-113dup	NP_001167551.1:n.5077-114_5077-113dup
NM_023035.3:c.5086-114_5086-113dup	NP_075461.2:n.5086-114_5086-113dup
NM_001127221.2:c.5071-114_5071-113dup	NP_001120693.1:n.5071-114_5071-113dup