Canonical Allele Identifier: CA2740091923

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 2950704
• ClinVar RCV Id: RCV003810014

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13224710_13224760del , CM000681.2:g.13224710_13224760del	GRCh38
NC_000019.9:g.13335524_13335574del , CM000681.1:g.13335524_13335574del	GRCh37
NC_000019.8:g.13196524_13196574del	NCBI36
NG_011569.1:g.286705_286755del , LRG_7:g.286705_286755del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5642_5692del MANE Select	ENSP00000353362.5:p.Asp1881_Met1897del
ENST00000573710.7:c.5648_5698del	ENSP00000460092.3:p.Asp1883_Met1899del
ENST00000585802.6:c.803_853del	ENSP00000465598.2:p.Asp268_Met284del
ENST00000635727.1:c.5645_5695del	ENSP00000490001.1:p.Asp1882_Met1898del
ENST00000635895.1:c.5645_5695del	ENSP00000490323.1:p.Asp1882_Met1898del
ENST00000635988.1:n.1800_1850del
ENST00000636012.1:c.5645_5695del	ENSP00000490223.1:p.Asp1882_Met1898del
ENST00000636389.1:c.5645_5695del	ENSP00000489992.1:p.Asp1882_Met1898del
ENST00000636473.1:c.512_562del	ENSP00000490173.1:p.Asp171_Met187del
ENST00000636549.1:c.5651_5701del	ENSP00000490578.1:p.Asp1884_Met1900del
ENST00000636610.1:n.559_609del
ENST00000636768.1:c.172_222del	ENSP00000490190.1:p.Thr58_Trp74del
ENST00000637276.1:c.5645_5695del	ENSP00000489777.1:p.Asp1882_Met1898del
ENST00000637432.1:c.5660_5710del	ENSP00000490617.1:p.Asp1887_Met1903del
ENST00000637736.1:c.5504_5554del	ENSP00000489861.1:p.Asp1835_Met1851del
ENST00000637769.1:c.5645_5695del	ENSP00000489778.1:p.Asp1882_Met1898del
ENST00000637819.1:c.1046_1096del	ENSP00000490686.1:p.Asp349_Met365del
ENST00000637927.1:c.5648_5698del	ENSP00000489715.1:p.Asp1883_Met1899del
ENST00000638009.2:c.5645_5695del	ENSP00000489913.1:p.Asp1882_Met1898del
ENST00000638029.1:c.5660_5710del	ENSP00000489829.1:p.Asp1887_Met1903del
ENST00000664864.1:c.5846_5896del	ENSP00000499449.1:p.Asp1949_Met1965del
ENST00000360228.9:c.5642_5692del	ENSP00000353362.5:p.Asp1881_Met1897del
ENST00000573710.6:c.5645_5695del	ENSP00000460092.2:p.Asp1882_Met1898del
ENST00000585802.5:c.1700_1750del	ENSP00000465598.1:p.Asp567_Met583del
ENST00000586190.1:n.201_251del
ENST00000587525.5:c.1103_1153del	ENSP00000467729.1:p.Asp368_Met384del
ENST00000614285.4:c.5660_5710del	ENSP00000479983.1:p.Asp1887_Met1903del
NM_000068.3:c.5660_5710del	NP_000059.3:p.Asp1887_Met1903del
NM_001127221.1:c.5645_5695del , LRG_7t1:c.5645_5695del	NP_001120693.1:p.Asp1882_Met1898del
NM_001127222.1:c.5642_5692del	NP_001120694.1:p.Asp1881_Met1897del
NM_001174080.1:c.5651_5701del	NP_001167551.1:p.Asp1884_Met1900del
NM_023035.2:c.5660_5710del	NP_075461.2:p.Asp1887_Met1903del
NM_000068.4:c.5660_5710del	NP_000059.3:p.Asp1887_Met1903del
NM_001127222.2:c.5642_5692del MANE Select	NP_001120694.1:p.Asp1881_Met1897del
NM_001174080.2:c.5651_5701del	NP_001167551.1:p.Asp1884_Met1900del
NM_023035.3:c.5660_5710del	NP_075461.2:p.Asp1887_Met1903del
NM_001127221.2:c.5645_5695del	NP_001120693.1:p.Asp1882_Met1898del