Canonical Allele Identifier: CA783418424

Gene: CACNA1A

Linked Data

• dbSNP Id: rs1246398569
• gnomAD v3: 19-13261905-ACT-A
• gnomAD v4: 19-13261905-ACT-A
• MyVariant Identifiers: chr19:g.13372720_13372721del (hg19) ; chr19:g.13261906_13261907del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13261911_13261912del , CM000681.2:g.13261911_13261912del	GRCh38
NC_000019.9:g.13372725_13372726del , CM000681.1:g.13372725_13372726del	GRCh37
NC_000019.8:g.13233725_13233726del	NCBI36
NG_011569.1:g.249554_249555del , LRG_7:g.249554_249555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4090-297_4090-296del MANE Select	ENSP00000353362.5:n.4090-297_4090-296del
ENST00000573710.7:c.4096-297_4096-296del	ENSP00000460092.3:n.4096-297_4096-296del
ENST00000590205.2:n.799_800del
ENST00000635727.1:c.4093-297_4093-296del	ENSP00000490001.1:n.4093-297_4093-296del
ENST00000635742.1:n.79-297_79-296del
ENST00000635895.1:c.4093-297_4093-296del	ENSP00000490323.1:n.4093-297_4093-296del
ENST00000635917.1:n.582-297_582-296del
ENST00000636012.1:c.4093-297_4093-296del	ENSP00000490223.1:n.4093-297_4093-296del
ENST00000636389.1:c.4093-297_4093-296del	ENSP00000489992.1:n.4093-297_4093-296del
ENST00000636549.1:c.4093-297_4093-296del	ENSP00000490578.1:n.4093-297_4093-296del
ENST00000636816.1:n.778-297_778-296del
ENST00000637004.1:n.556-297_556-296del
ENST00000637276.1:c.4093-297_4093-296del	ENSP00000489777.1:n.4093-297_4093-296del
ENST00000637432.1:c.4102-297_4102-296del	ENSP00000490617.1:n.4102-297_4102-296del
ENST00000637692.1:n.412-297_412-296del
ENST00000637736.1:c.3952-297_3952-296del	ENSP00000489861.1:n.3952-297_3952-296del
ENST00000637769.1:c.4093-297_4093-296del	ENSP00000489778.1:n.4093-297_4093-296del
ENST00000637927.1:c.4096-297_4096-296del	ENSP00000489715.1:n.4096-297_4096-296del
ENST00000638009.2:c.4093-297_4093-296del	ENSP00000489913.1:n.4093-297_4093-296del
ENST00000638029.1:c.4102-297_4102-296del	ENSP00000489829.1:n.4102-297_4102-296del
ENST00000664864.1:c.4288-297_4288-296del	ENSP00000499449.1:n.4288-297_4288-296del
ENST00000360228.9:c.4090-297_4090-296del	ENSP00000353362.5:n.4090-297_4090-296del
ENST00000573710.6:c.4093-297_4093-296del	ENSP00000460092.2:n.4093-297_4093-296del
ENST00000585802.5:c.148-297_148-296del	ENSP00000465598.1:n.148-297_148-296del
ENST00000590205.1:n.169-297_169-296del
ENST00000614285.4:c.4102-297_4102-296del	ENSP00000479983.1:n.4102-297_4102-296del
NM_000068.3:c.4102-297_4102-296del	NP_000059.3:n.4102-297_4102-296del
NM_001127221.1:c.4093-297_4093-296del , LRG_7t1:c.4093-297_4093-296del	NP_001120693.1:n.4093-297_4093-296del
NM_001127222.1:c.4090-297_4090-296del	NP_001120694.1:n.4090-297_4090-296del
NM_001174080.1:c.4093-297_4093-296del	NP_001167551.1:n.4093-297_4093-296del
NM_023035.2:c.4102-297_4102-296del	NP_075461.2:n.4102-297_4102-296del
NM_000068.4:c.4102-297_4102-296del	NP_000059.3:n.4102-297_4102-296del
NM_001127222.2:c.4090-297_4090-296del MANE Select	NP_001120694.1:n.4090-297_4090-296del
NM_001174080.2:c.4093-297_4093-296del	NP_001167551.1:n.4093-297_4093-296del
NM_023035.3:c.4102-297_4102-296del	NP_075461.2:n.4102-297_4102-296del
NM_001127221.2:c.4093-297_4093-296del	NP_001120693.1:n.4093-297_4093-296del