Canonical Allele Identifier: CA2582818885

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13235131-GCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235135_13235137del , CM000681.2:g.13235135_13235137del	GRCh38
NC_000019.9:g.13345949_13345951del , CM000681.1:g.13345949_13345951del	GRCh37
NC_000019.8:g.13206949_13206951del	NCBI36
NG_011569.1:g.276327_276329del , LRG_7:g.276327_276329del

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5133+75_5133+77del MANE Select	ENSP00000353362.5:n.5133+75_5133+77del
ENST00000573710.7:c.5139+75_5139+77del	ENSP00000460092.3:n.5139+75_5139+77del
ENST00000573891.6:c.552+75_552+77del
ENST00000574822.6:n.357+75_357+77del
ENST00000585802.6:c.294+75_294+77del	ENSP00000465598.2:n.294+75_294+77del
ENST00000593267.2:n.338+75_338+77del
ENST00000635727.1:c.5136+75_5136+77del	ENSP00000490001.1:n.5136+75_5136+77del
ENST00000635742.1:n.1122+75_1122+77del
ENST00000635895.1:c.5136+75_5136+77del	ENSP00000490323.1:n.5136+75_5136+77del
ENST00000636012.1:c.5136+75_5136+77del	ENSP00000490223.1:n.5136+75_5136+77del
ENST00000636058.1:c.448+75_448+77del
ENST00000636389.1:c.5136+75_5136+77del	ENSP00000489992.1:n.5136+75_5136+77del
ENST00000636473.1:c.229-98_229-96del	ENSP00000490173.1:n.229-98_229-96del
ENST00000636549.1:c.5142+75_5142+77del	ENSP00000490578.1:n.5142+75_5142+77del
ENST00000637276.1:c.5136+75_5136+77del	ENSP00000489777.1:n.5136+75_5136+77del
ENST00000637297.1:c.429+75_429+77del	ENSP00000489692.1:n.429+75_429+77del
ENST00000637432.1:c.5151+75_5151+77del	ENSP00000490617.1:n.5151+75_5151+77del
ENST00000637736.1:c.4995+75_4995+77del	ENSP00000489861.1:n.4995+75_4995+77del
ENST00000637769.1:c.5136+75_5136+77del	ENSP00000489778.1:n.5136+75_5136+77del
ENST00000637777.1:c.328-98_328-96del
ENST00000637809.1:n.526+75_526+77del
ENST00000637819.1:c.537+75_537+77del	ENSP00000490686.1:n.537+75_537+77del
ENST00000637832.1:n.127+75_127+77del
ENST00000637927.1:c.5139+75_5139+77del	ENSP00000489715.1:n.5139+75_5139+77del
ENST00000638009.2:c.5136+75_5136+77del	ENSP00000489913.1:n.5136+75_5136+77del
ENST00000638029.1:c.5151+75_5151+77del	ENSP00000489829.1:n.5151+75_5151+77del
ENST00000664864.1:c.5337+75_5337+77del	ENSP00000499449.1:n.5337+75_5337+77del
ENST00000360228.9:c.5133+75_5133+77del	ENSP00000353362.5:n.5133+75_5133+77del
ENST00000573710.6:c.5136+75_5136+77del	ENSP00000460092.2:n.5136+75_5136+77del
ENST00000573891.5:c.552+75_552+77del
ENST00000574822.5:n.357+75_357+77del
ENST00000585802.5:c.1191+75_1191+77del	ENSP00000465598.1:n.1191+75_1191+77del
ENST00000587525.5:c.594+75_594+77del	ENSP00000467729.1:n.594+75_594+77del
ENST00000593267.1:n.338+75_338+77del
ENST00000614285.4:c.5151+75_5151+77del	ENSP00000479983.1:n.5151+75_5151+77del
NM_000068.3:c.5151+75_5151+77del	NP_000059.3:n.5151+75_5151+77del
NM_001127221.1:c.5136+75_5136+77del , LRG_7t1:c.5136+75_5136+77del	NP_001120693.1:n.5136+75_5136+77del
NM_001127222.1:c.5133+75_5133+77del	NP_001120694.1:n.5133+75_5133+77del
NM_001174080.1:c.5142+75_5142+77del	NP_001167551.1:n.5142+75_5142+77del
NM_023035.2:c.5151+75_5151+77del	NP_075461.2:n.5151+75_5151+77del
NM_000068.4:c.5151+75_5151+77del	NP_000059.3:n.5151+75_5151+77del
NM_001127222.2:c.5133+75_5133+77del MANE Select	NP_001120694.1:n.5133+75_5133+77del
NM_001174080.2:c.5142+75_5142+77del	NP_001167551.1:n.5142+75_5142+77del
NM_023035.3:c.5151+75_5151+77del	NP_075461.2:n.5151+75_5151+77del
NM_001127221.2:c.5136+75_5136+77del	NP_001120693.1:n.5136+75_5136+77del