Canonical Allele Identifier: CA658658787

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 476244
• ClinVar RCV Id: RCV000526339 ; RCV000757052 ; RCV002464259
• dbSNP Id: rs1555755909
• MyVariant Identifiers: chr19:g.13409518_13409543del (hg19) ; chr19:g.13298704_13298729del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13298710_13298735del , CM000681.2:g.13298710_13298735del	GRCh38
NC_000019.9:g.13409524_13409549del , CM000681.1:g.13409524_13409549del	GRCh37
NC_000019.8:g.13270524_13270549del	NCBI36
NG_011569.1:g.212732_212757del , LRG_7:g.212732_212757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.2904_2929del MANE Select	ENSP00000353362.5:p.Pro969AlafsTer?
ENST00000573710.7:c.2910_2935del	ENSP00000460092.3:p.Pro971AlafsTer?
ENST00000635727.1:c.2907_2932del	ENSP00000490001.1:p.Pro970AlafsTer?
ENST00000635895.1:c.2907_2932del	ENSP00000490323.1:p.Pro970AlafsTer?
ENST00000636012.1:c.2907_2932del	ENSP00000490223.1:p.Pro970AlafsTer?
ENST00000636389.1:c.2907_2932del	ENSP00000489992.1:p.Pro970AlafsTer?
ENST00000636549.1:c.2907_2932del	ENSP00000490578.1:p.Pro970AlafsTer?
ENST00000637276.1:c.2907_2932del	ENSP00000489777.1:p.Pro970AlafsTer?
ENST00000637432.1:c.2916_2941del	ENSP00000490617.1:p.Pro973AlafsTer?
ENST00000637736.1:c.2766_2791del	ENSP00000489861.1:p.Pro923AlafsTer?
ENST00000637769.1:c.2907_2932del	ENSP00000489778.1:p.Pro970AlafsTer?
ENST00000637927.1:c.2910_2935del	ENSP00000489715.1:p.Pro971AlafsTer?
ENST00000638009.2:c.2907_2932del	ENSP00000489913.1:p.Pro970AlafsTer?
ENST00000638029.1:c.2916_2941del	ENSP00000489829.1:p.Pro973AlafsTer?
ENST00000664864.1:c.3102_3127del	ENSP00000499449.1:p.Pro1035AlafsTer?
ENST00000360228.9:c.2904_2929del	ENSP00000353362.5:p.Pro969AlafsTer?
ENST00000573710.6:c.2907_2932del	ENSP00000460092.2:p.Pro970AlafsTer?
ENST00000614285.4:c.2916_2941del	ENSP00000479983.1:p.Pro973AlafsTer?
NM_000068.3:c.2916_2941del	NP_000059.3:p.Pro973AlafsTer?
NM_001127221.1:c.2907_2932del , LRG_7t1:c.2907_2932del	NP_001120693.1:p.Pro970AlafsTer?
NM_001127222.1:c.2904_2929del	NP_001120694.1:p.Pro969AlafsTer?
NM_001174080.1:c.2907_2932del	NP_001167551.1:p.Pro970AlafsTer?
NM_023035.2:c.2916_2941del	NP_075461.2:p.Pro973AlafsTer?
NM_000068.4:c.2916_2941del	NP_000059.3:p.Pro973AlafsTer?
NM_001127222.2:c.2904_2929del MANE Select	NP_001120694.1:p.Pro969AlafsTer?
NM_001174080.2:c.2907_2932del	NP_001167551.1:p.Pro970AlafsTer?
NM_023035.3:c.2916_2941del	NP_075461.2:p.Pro973AlafsTer?
NM_001127221.2:c.2907_2932del	NP_001120693.1:p.Pro970AlafsTer?