Canonical Allele Identifier: CA783430342

Gene: CACNA1A

Linked Data

• dbSNP Id: rs1287020005
• MyVariant Identifiers: chr19:g.13346113_13346114del (hg19) ; chr19:g.13235299_13235300del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235299_13235300del , CM000681.2:g.13235299_13235300del	GRCh38
NC_000019.9:g.13346113_13346114del , CM000681.1:g.13346113_13346114del	GRCh37
NC_000019.8:g.13207113_13207114del	NCBI36
NG_011569.1:g.276161_276162del , LRG_7:g.276161_276162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5068-26_5068-25del MANE Select	ENSP00000353362.5:n.5068-26_5068-25del
ENST00000573710.7:c.5074-26_5074-25del	ENSP00000460092.3:n.5074-26_5074-25del
ENST00000573891.6:c.487-26_487-25del
ENST00000574822.6:n.292-26_292-25del
ENST00000585802.6:c.229-26_229-25del	ENSP00000465598.2:n.229-26_229-25del
ENST00000593267.2:n.273-26_273-25del
ENST00000635727.1:c.5071-26_5071-25del	ENSP00000490001.1:n.5071-26_5071-25del
ENST00000635742.1:n.1057-26_1057-25del
ENST00000635895.1:c.5071-26_5071-25del	ENSP00000490323.1:n.5071-26_5071-25del
ENST00000636012.1:c.5071-26_5071-25del	ENSP00000490223.1:n.5071-26_5071-25del
ENST00000636058.1:c.383-26_383-25del
ENST00000636389.1:c.5071-26_5071-25del	ENSP00000489992.1:n.5071-26_5071-25del
ENST00000636473.1:c.229-264_229-263del	ENSP00000490173.1:n.229-264_229-263del
ENST00000636549.1:c.5077-26_5077-25del	ENSP00000490578.1:n.5077-26_5077-25del
ENST00000637276.1:c.5071-26_5071-25del	ENSP00000489777.1:n.5071-26_5071-25del
ENST00000637297.1:c.364-26_364-25del	ENSP00000489692.1:n.364-26_364-25del
ENST00000637432.1:c.5086-26_5086-25del	ENSP00000490617.1:n.5086-26_5086-25del
ENST00000637736.1:c.4930-26_4930-25del	ENSP00000489861.1:n.4930-26_4930-25del
ENST00000637769.1:c.5071-26_5071-25del	ENSP00000489778.1:n.5071-26_5071-25del
ENST00000637777.1:c.328-264_328-263del
ENST00000637809.1:n.461-26_461-25del
ENST00000637819.1:c.472-26_472-25del	ENSP00000490686.1:n.472-26_472-25del
ENST00000637832.1:n.62-26_62-25del
ENST00000637927.1:c.5074-26_5074-25del	ENSP00000489715.1:n.5074-26_5074-25del
ENST00000638009.2:c.5071-26_5071-25del	ENSP00000489913.1:n.5071-26_5071-25del
ENST00000638029.1:c.5086-26_5086-25del	ENSP00000489829.1:n.5086-26_5086-25del
ENST00000664864.1:c.5272-26_5272-25del	ENSP00000499449.1:n.5272-26_5272-25del
ENST00000360228.9:c.5068-26_5068-25del	ENSP00000353362.5:n.5068-26_5068-25del
ENST00000573710.6:c.5071-26_5071-25del	ENSP00000460092.2:n.5071-26_5071-25del
ENST00000573891.5:c.487-26_487-25del
ENST00000574822.5:n.292-26_292-25del
ENST00000585802.5:c.1126-26_1126-25del	ENSP00000465598.1:n.1126-26_1126-25del
ENST00000587525.5:c.529-26_529-25del	ENSP00000467729.1:n.529-26_529-25del
ENST00000593267.1:n.273-26_273-25del
ENST00000614285.4:c.5086-26_5086-25del	ENSP00000479983.1:n.5086-26_5086-25del
NM_000068.3:c.5086-26_5086-25del	NP_000059.3:n.5086-26_5086-25del
NM_001127221.1:c.5071-26_5071-25del , LRG_7t1:c.5071-26_5071-25del	NP_001120693.1:n.5071-26_5071-25del
NM_001127222.1:c.5068-26_5068-25del	NP_001120694.1:n.5068-26_5068-25del
NM_001174080.1:c.5077-26_5077-25del	NP_001167551.1:n.5077-26_5077-25del
NM_023035.2:c.5086-26_5086-25del	NP_075461.2:n.5086-26_5086-25del
NM_000068.4:c.5086-26_5086-25del	NP_000059.3:n.5086-26_5086-25del
NM_001127222.2:c.5068-26_5068-25del MANE Select	NP_001120694.1:n.5068-26_5068-25del
NM_001174080.2:c.5077-26_5077-25del	NP_001167551.1:n.5077-26_5077-25del
NM_023035.3:c.5086-26_5086-25del	NP_075461.2:n.5086-26_5086-25del
NM_001127221.2:c.5071-26_5071-25del	NP_001120693.1:n.5071-26_5071-25del