Canonical Allele Identifier: CA16620801

Gene: CACNA1A

Linked Data

• ClinVar Variation Id: 421493
• ClinVar RCV Id: RCV000483306
• dbSNP Id: rs1064795173

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13371741_13371748delinsAGTTC , CM000681.2:g.13371741_13371748delinsAGTTC	GRCh38
NC_000019.9:g.13482555_13482562delinsAGTTC , CM000681.1:g.13482555_13482562delinsAGTTC	GRCh37
NC_000019.8:g.13343555_13343562delinsAGTTC	NCBI36
NG_011569.1:g.139713_139720delinsGAACT , LRG_7:g.139713_139720delinsGAACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.571_578delinsGAACT MANE Select	ENSP00000353362.5:p.Leu191_Thr193delinsGl...
ENST00000573710.7:c.571_578delinsGAACT	ENSP00000460092.3:p.Leu191_Thr193delinsGl...
ENST00000593160.2:n.286_293delinsGAACT
ENST00000635727.1:c.571_578delinsGAACT	ENSP00000490001.1:p.Leu191_Thr193delinsGl...
ENST00000635895.1:c.571_578delinsGAACT	ENSP00000490323.1:p.Leu191_Thr193delinsGl...
ENST00000636012.1:c.571_578delinsGAACT	ENSP00000490223.1:p.Leu191_Thr193delinsGl...
ENST00000636389.1:c.571_578delinsGAACT	ENSP00000489992.1:p.Leu191_Thr193delinsGl...
ENST00000636549.1:c.571_578delinsGAACT	ENSP00000490578.1:p.Leu191_Thr193delinsGl...
ENST00000636966.1:n.459_466delinsGAACT
ENST00000637276.1:c.571_578delinsGAACT	ENSP00000489777.1:p.Leu191_Thr193delinsGl...
ENST00000637432.1:c.571_578delinsGAACT	ENSP00000490617.1:p.Leu191_Thr193delinsGl...
ENST00000637736.1:c.430_437delinsGAACT	ENSP00000489861.1:p.Leu144_Thr146delinsGl...
ENST00000637769.1:c.571_578delinsGAACT	ENSP00000489778.1:p.Leu191_Thr193delinsGl...
ENST00000637927.1:c.571_578delinsGAACT	ENSP00000489715.1:p.Leu191_Thr193delinsGl...
ENST00000637966.1:n.424_431delinsGAACT
ENST00000637981.1:n.389_396delinsGAACT
ENST00000638009.2:c.571_578delinsGAACT	ENSP00000489913.1:p.Leu191_Thr193delinsGl...
ENST00000638029.1:c.571_578delinsGAACT	ENSP00000489829.1:p.Leu191_Thr193delinsGl...
ENST00000664864.1:c.766_773delinsGAACT	ENSP00000499449.1:p.Leu256_Thr258delinsGl...
ENST00000360228.9:c.571_578delinsGAACT	ENSP00000353362.5:p.Leu191_Thr193delinsGl...
ENST00000573710.6:c.571_578delinsGAACT	ENSP00000460092.2:p.Leu191_Thr193delinsGl...
ENST00000614285.4:c.571_578delinsGAACT	ENSP00000479983.1:p.Leu191_Thr193delinsGl...
NM_000068.3:c.571_578delinsGAACT	NP_000059.3:p.Leu191_Thr193delinsGluLeu
NM_001127221.1:c.571_578delinsGAACT , LRG_7t1:c.571_578delinsGAACT	NP_001120693.1:p.Leu191_Thr193delinsGluLe...
NM_001127222.1:c.571_578delinsGAACT	NP_001120694.1:p.Leu191_Thr193delinsGluLe...
NM_001174080.1:c.571_578delinsGAACT	NP_001167551.1:p.Leu191_Thr193delinsGluLe...
NM_023035.2:c.571_578delinsGAACT	NP_075461.2:p.Leu191_Thr193delinsGluLeu
NM_000068.4:c.571_578delinsGAACT	NP_000059.3:p.Leu191_Thr193delinsGluLeu
NM_001127222.2:c.571_578delinsGAACT MANE Select	NP_001120694.1:p.Leu191_Thr193delinsGluLe...
NM_001174080.2:c.571_578delinsGAACT	NP_001167551.1:p.Leu191_Thr193delinsGluLe...
NM_023035.3:c.571_578delinsGAACT	NP_075461.2:p.Leu191_Thr193delinsGluLeu
NM_001127221.2:c.571_578delinsGAACT	NP_001120693.1:p.Leu191_Thr193delinsGluLe...