Canonical Allele Identifier: CA2582827650

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13262734-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13262736del , CM000681.2:g.13262736del	GRCh38
NC_000019.9:g.13373550del , CM000681.1:g.13373550del	GRCh37
NC_000019.8:g.13234550del	NCBI36
NG_011569.1:g.248726del , LRG_7:g.248726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4088del MANE Select	ENSP00000353362.5:p.Lys1363ArgfsTer8
ENST00000573710.7:c.4094del	ENSP00000460092.3:p.Lys1365ArgfsTer8
ENST00000635727.1:c.4091del	ENSP00000490001.1:p.Lys1364ArgfsTer8
ENST00000635742.1:n.77del
ENST00000635895.1:c.4091del	ENSP00000490323.1:p.Lys1364ArgfsTer8
ENST00000635917.1:n.580del
ENST00000636012.1:c.4091del	ENSP00000490223.1:p.Lys1364ArgfsTer8
ENST00000636389.1:c.4091del	ENSP00000489992.1:p.Lys1364ArgfsTer8
ENST00000636549.1:c.4091del	ENSP00000490578.1:p.Lys1364ArgfsTer8
ENST00000636816.1:n.776del
ENST00000637004.1:n.554del
ENST00000637276.1:c.4091del	ENSP00000489777.1:p.Lys1364ArgfsTer8
ENST00000637432.1:c.4100del	ENSP00000490617.1:p.Lys1367ArgfsTer8
ENST00000637692.1:n.410del
ENST00000637736.1:c.3950del	ENSP00000489861.1:p.Lys1317ArgfsTer8
ENST00000637769.1:c.4091del	ENSP00000489778.1:p.Lys1364ArgfsTer8
ENST00000637927.1:c.4094del	ENSP00000489715.1:p.Lys1365ArgfsTer8
ENST00000638009.2:c.4091del	ENSP00000489913.1:p.Lys1364ArgfsTer8
ENST00000638029.1:c.4100del	ENSP00000489829.1:p.Lys1367ArgfsTer8
ENST00000664864.1:c.4286del	ENSP00000499449.1:p.Lys1429ArgfsTer8
ENST00000360228.9:c.4088del	ENSP00000353362.5:p.Lys1363ArgfsTer8
ENST00000573710.6:c.4091del	ENSP00000460092.2:p.Lys1364ArgfsTer8
ENST00000585802.5:c.146del	ENSP00000465598.1:p.Lys49ArgfsTer8
ENST00000590205.1:n.167del
ENST00000614285.4:c.4100del	ENSP00000479983.1:p.Lys1367ArgfsTer8
NM_000068.3:c.4100del	NP_000059.3:p.Lys1367ArgfsTer8
NM_001127221.1:c.4091del , LRG_7t1:c.4091del	NP_001120693.1:p.Lys1364ArgfsTer8
NM_001127222.1:c.4088del	NP_001120694.1:p.Lys1363ArgfsTer8
NM_001174080.1:c.4091del	NP_001167551.1:p.Lys1364ArgfsTer8
NM_023035.2:c.4100del	NP_075461.2:p.Lys1367ArgfsTer8
NM_000068.4:c.4100del	NP_000059.3:p.Lys1367ArgfsTer8
NM_001127222.2:c.4088del MANE Select	NP_001120694.1:p.Lys1363ArgfsTer8
NM_001174080.2:c.4091del	NP_001167551.1:p.Lys1364ArgfsTer8
NM_023035.3:c.4100del	NP_075461.2:p.Lys1367ArgfsTer8
NM_001127221.2:c.4091del	NP_001120693.1:p.Lys1364ArgfsTer8