Canonical Allele Identifier: CA2582827083

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13261798-CTGGCATTCTAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13261799_13261809del , CM000681.2:g.13261799_13261809del	GRCh38
NC_000019.9:g.13372613_13372623del , CM000681.1:g.13372613_13372623del	GRCh37
NC_000019.8:g.13233613_13233623del	NCBI36
NG_011569.1:g.249652_249662del , LRG_7:g.249652_249662del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4090-199_4090-189del MANE Select	ENSP00000353362.5:n.4090-199_4090-189del
ENST00000573710.7:c.4096-199_4096-189del	ENSP00000460092.3:n.4096-199_4096-189del
ENST00000590205.2:n.897_907del
ENST00000635727.1:c.4093-199_4093-189del	ENSP00000490001.1:n.4093-199_4093-189del
ENST00000635742.1:n.79-199_79-189del
ENST00000635895.1:c.4093-199_4093-189del	ENSP00000490323.1:n.4093-199_4093-189del
ENST00000635917.1:n.582-199_582-189del
ENST00000636012.1:c.4093-199_4093-189del	ENSP00000490223.1:n.4093-199_4093-189del
ENST00000636389.1:c.4093-199_4093-189del	ENSP00000489992.1:n.4093-199_4093-189del
ENST00000636549.1:c.4093-199_4093-189del	ENSP00000490578.1:n.4093-199_4093-189del
ENST00000636816.1:n.778-199_778-189del
ENST00000637004.1:n.556-199_556-189del
ENST00000637276.1:c.4093-199_4093-189del	ENSP00000489777.1:n.4093-199_4093-189del
ENST00000637432.1:c.4102-199_4102-189del	ENSP00000490617.1:n.4102-199_4102-189del
ENST00000637692.1:n.412-199_412-189del
ENST00000637736.1:c.3952-199_3952-189del	ENSP00000489861.1:n.3952-199_3952-189del
ENST00000637769.1:c.4093-199_4093-189del	ENSP00000489778.1:n.4093-199_4093-189del
ENST00000637927.1:c.4096-199_4096-189del	ENSP00000489715.1:n.4096-199_4096-189del
ENST00000638009.2:c.4093-199_4093-189del	ENSP00000489913.1:n.4093-199_4093-189del
ENST00000638029.1:c.4102-199_4102-189del	ENSP00000489829.1:n.4102-199_4102-189del
ENST00000664864.1:c.4288-199_4288-189del	ENSP00000499449.1:n.4288-199_4288-189del
ENST00000360228.9:c.4090-199_4090-189del	ENSP00000353362.5:n.4090-199_4090-189del
ENST00000573710.6:c.4093-199_4093-189del	ENSP00000460092.2:n.4093-199_4093-189del
ENST00000585802.5:c.148-199_148-189del	ENSP00000465598.1:n.148-199_148-189del
ENST00000590205.1:n.169-199_169-189del
ENST00000614285.4:c.4102-199_4102-189del	ENSP00000479983.1:n.4102-199_4102-189del
NM_000068.3:c.4102-199_4102-189del	NP_000059.3:n.4102-199_4102-189del
NM_001127221.1:c.4093-199_4093-189del , LRG_7t1:c.4093-199_4093-189del	NP_001120693.1:n.4093-199_4093-189del
NM_001127222.1:c.4090-199_4090-189del	NP_001120694.1:n.4090-199_4090-189del
NM_001174080.1:c.4093-199_4093-189del	NP_001167551.1:n.4093-199_4093-189del
NM_023035.2:c.4102-199_4102-189del	NP_075461.2:n.4102-199_4102-189del
NM_000068.4:c.4102-199_4102-189del	NP_000059.3:n.4102-199_4102-189del
NM_001127222.2:c.4090-199_4090-189del MANE Select	NP_001120694.1:n.4090-199_4090-189del
NM_001174080.2:c.4093-199_4093-189del	NP_001167551.1:n.4093-199_4093-189del
NM_023035.3:c.4102-199_4102-189del	NP_075461.2:n.4102-199_4102-189del
NM_001127221.2:c.4093-199_4093-189del	NP_001120693.1:n.4093-199_4093-189del