Canonical Allele Identifier: CA783473797

Gene: CACNA1A

Linked Data

• dbSNP Id: rs1271429535
• gnomAD v3: 19-13359578-CCACA-C
• gnomAD v4: 19-13359578-CCACA-C
• MyVariant Identifiers: chr19:g.13470393_13470396del (hg19) ; chr19:g.13359579_13359582del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13359584_13359587del , CM000681.2:g.13359584_13359587del	GRCh38
NC_000019.9:g.13470398_13470401del , CM000681.1:g.13470398_13470401del	GRCh37
NC_000019.8:g.13331398_13331401del	NCBI36
NG_011569.1:g.151879_151882del , LRG_7:g.151879_151882del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.978+24_978+27del MANE Select	ENSP00000353362.5:n.978+24_978+27del
ENST00000573710.7:c.978+24_978+27del	ENSP00000460092.3:n.978+24_978+27del
ENST00000593160.2:n.693+24_693+27del
ENST00000635727.1:c.978+24_978+27del	ENSP00000490001.1:n.978+24_978+27del
ENST00000635895.1:c.978+24_978+27del	ENSP00000490323.1:n.978+24_978+27del
ENST00000636012.1:c.978+24_978+27del	ENSP00000490223.1:n.978+24_978+27del
ENST00000636389.1:c.978+24_978+27del	ENSP00000489992.1:n.978+24_978+27del
ENST00000636549.1:c.978+24_978+27del	ENSP00000490578.1:n.978+24_978+27del
ENST00000636974.1:n.337+24_337+27del
ENST00000637276.1:c.978+24_978+27del	ENSP00000489777.1:n.978+24_978+27del
ENST00000637432.1:c.978+24_978+27del	ENSP00000490617.1:n.978+24_978+27del
ENST00000637736.1:c.837+24_837+27del	ENSP00000489861.1:n.837+24_837+27del
ENST00000637769.1:c.978+24_978+27del	ENSP00000489778.1:n.978+24_978+27del
ENST00000637927.1:c.978+24_978+27del	ENSP00000489715.1:n.978+24_978+27del
ENST00000637966.1:n.831+24_831+27del
ENST00000638009.2:c.978+24_978+27del	ENSP00000489913.1:n.978+24_978+27del
ENST00000638029.1:c.978+24_978+27del	ENSP00000489829.1:n.978+24_978+27del
ENST00000664864.1:c.1173+24_1173+27del	ENSP00000499449.1:n.1173+24_1173+27del
ENST00000360228.9:c.978+24_978+27del	ENSP00000353362.5:n.978+24_978+27del
ENST00000573710.6:c.978+24_978+27del	ENSP00000460092.2:n.978+24_978+27del
ENST00000593160.1:n.198+24_198+27del
ENST00000614285.4:c.978+24_978+27del	ENSP00000479983.1:n.978+24_978+27del
NM_000068.3:c.978+24_978+27del	NP_000059.3:n.978+24_978+27del
NM_001127221.1:c.978+24_978+27del , LRG_7t1:c.978+24_978+27del	NP_001120693.1:n.978+24_978+27del
NM_001127222.1:c.978+24_978+27del	NP_001120694.1:n.978+24_978+27del
NM_001174080.1:c.978+24_978+27del	NP_001167551.1:n.978+24_978+27del
NM_023035.2:c.978+24_978+27del	NP_075461.2:n.978+24_978+27del
NM_000068.4:c.978+24_978+27del	NP_000059.3:n.978+24_978+27del
NM_001127222.2:c.978+24_978+27del MANE Select	NP_001120694.1:n.978+24_978+27del
NM_001174080.2:c.978+24_978+27del	NP_001167551.1:n.978+24_978+27del
NM_023035.3:c.978+24_978+27del	NP_075461.2:n.978+24_978+27del
NM_001127221.2:c.978+24_978+27del	NP_001120693.1:n.978+24_978+27del