Canonical Allele Identifier: CA658767451

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13253033_13253034del , CM000681.2:g.13253033_13253034del	GRCh38
NC_000019.9:g.13363847_13363848del , CM000681.1:g.13363847_13363848del	GRCh37
NC_000019.8:g.13224847_13224848del	NCBI36
NG_011569.1:g.258432_258433del , LRG_7:g.258432_258433del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.4828_4829del MANE Select	ENSP00000353362.5:p.Leu1610GlyfsTer?
ENST00000573710.7:c.4834_4835del	ENSP00000460092.3:p.Leu1612GlyfsTer?
ENST00000573891.6:c.77_78del
ENST00000574822.6:n.52_53del
ENST00000635727.1:c.4831_4832del	ENSP00000490001.1:p.Leu1611GlyfsTer?
ENST00000635742.1:n.817_818del
ENST00000635895.1:c.4831_4832del	ENSP00000490323.1:p.Leu1611GlyfsTer?
ENST00000635917.1:n.1320_1321del
ENST00000636012.1:c.4831_4832del	ENSP00000490223.1:p.Leu1611GlyfsTer?
ENST00000636389.1:c.4831_4832del	ENSP00000489992.1:p.Leu1611GlyfsTer?
ENST00000636549.1:c.4831_4832del	ENSP00000490578.1:p.Leu1611GlyfsTer?
ENST00000636816.1:n.1516_1517del
ENST00000637004.1:n.1294_1295del
ENST00000637276.1:c.4831_4832del	ENSP00000489777.1:p.Leu1611GlyfsTer?
ENST00000637297.1:c.246+4321_246+4322del	ENSP00000489692.1:n.246+4321_246+4322del
ENST00000637432.1:c.4840_4841del	ENSP00000490617.1:p.Leu1614GlyfsTer?
ENST00000637692.1:n.1150_1151del
ENST00000637736.1:c.4690_4691del	ENSP00000489861.1:p.Leu1564GlyfsTer?
ENST00000637769.1:c.4831_4832del	ENSP00000489778.1:p.Leu1611GlyfsTer?
ENST00000637819.1:c.226_227del	ENSP00000490686.1:p.Leu76GlyfsTer?
ENST00000637927.1:c.4834_4835del	ENSP00000489715.1:p.Leu1612GlyfsTer?
ENST00000638009.2:c.4831_4832del	ENSP00000489913.1:p.Leu1611GlyfsTer?
ENST00000638029.1:c.4840_4841del	ENSP00000489829.1:p.Leu1614GlyfsTer?
ENST00000664864.1:c.5026_5027del	ENSP00000499449.1:p.Leu1676GlyfsTer?
ENST00000360228.9:c.4828_4829del	ENSP00000353362.5:p.Leu1610GlyfsTer?
ENST00000573710.6:c.4831_4832del	ENSP00000460092.2:p.Leu1611GlyfsTer?
ENST00000573891.5:c.77_78del
ENST00000574822.5:n.52_53del
ENST00000585802.5:c.886_887del	ENSP00000465598.1:p.Leu296GlyfsTer?
ENST00000587525.5:c.289_290del	ENSP00000467729.1:p.Leu97GlyfsTer?
ENST00000614285.4:c.4840_4841del	ENSP00000479983.1:p.Leu1614GlyfsTer?
NM_000068.3:c.4840_4841del	NP_000059.3:p.Leu1614GlyfsTer?
NM_001127221.1:c.4831_4832del , LRG_7t1:c.4831_4832del	NP_001120693.1:p.Leu1611GlyfsTer?
NM_001127222.1:c.4828_4829del	NP_001120694.1:p.Leu1610GlyfsTer?
NM_001174080.1:c.4831_4832del	NP_001167551.1:p.Leu1611GlyfsTer?
NM_023035.2:c.4840_4841del	NP_075461.2:p.Leu1614GlyfsTer?
NM_000068.4:c.4840_4841del	NP_000059.3:p.Leu1614GlyfsTer?
NM_001127222.2:c.4828_4829del MANE Select	NP_001120694.1:p.Leu1610GlyfsTer?
NM_001174080.2:c.4831_4832del	NP_001167551.1:p.Leu1611GlyfsTer?
NM_023035.3:c.4840_4841del	NP_075461.2:p.Leu1614GlyfsTer?
NM_001127221.2:c.4831_4832del	NP_001120693.1:p.Leu1611GlyfsTer?