Canonical Allele Identifier: CA2323854482

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13359968_13359975delinsCTATTGAT , CM000681.2:g.13359968_13359975delinsCTATTGAT	GRCh38
NC_000019.9:g.13470782_13470789delinsCTATTGAT , CM000681.1:g.13470782_13470789delinsCTATTGAT	GRCh37
NC_000019.8:g.13331782_13331789delinsCTATTGAT	NCBI36
NG_011569.1:g.151486_151493delinsATCAATAG , LRG_7:g.151486_151493delinsATCAATAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.785-176_785-169delinsATCAATAG MANE Select	ENSP00000353362.5:n.785-176_785-169delinsATCAATAG
ENST00000573710.7:c.785-176_785-169delinsATCAATAG	ENSP00000460092.3:n.785-176_785-169delinsATCAATAG
ENST00000593160.2:n.500-176_500-169delinsATCAATAG
ENST00000635727.1:c.785-176_785-169delinsATCAATAG	ENSP00000490001.1:n.785-176_785-169delinsATCAATAG
ENST00000635895.1:c.785-176_785-169delinsATCAATAG	ENSP00000490323.1:n.785-176_785-169delinsATCAATAG
ENST00000636012.1:c.785-176_785-169delinsATCAATAG	ENSP00000490223.1:n.785-176_785-169delinsATCAATAG
ENST00000636389.1:c.785-176_785-169delinsATCAATAG	ENSP00000489992.1:n.785-176_785-169delinsATCAATAG
ENST00000636549.1:c.785-176_785-169delinsATCAATAG	ENSP00000490578.1:n.785-176_785-169delinsATCAATAG
ENST00000636974.1:n.144-176_144-169delinsATCAATAG
ENST00000637276.1:c.785-176_785-169delinsATCAATAG	ENSP00000489777.1:n.785-176_785-169delinsATCAATAG
ENST00000637432.1:c.785-176_785-169delinsATCAATAG	ENSP00000490617.1:n.785-176_785-169delinsATCAATAG
ENST00000637736.1:c.644-176_644-169delinsATCAATAG	ENSP00000489861.1:n.644-176_644-169delinsATCAATAG
ENST00000637769.1:c.785-176_785-169delinsATCAATAG	ENSP00000489778.1:n.785-176_785-169delinsATCAATAG
ENST00000637927.1:c.785-176_785-169delinsATCAATAG	ENSP00000489715.1:n.785-176_785-169delinsATCAATAG
ENST00000637966.1:n.638-176_638-169delinsATCAATAG
ENST00000638009.2:c.785-176_785-169delinsATCAATAG	ENSP00000489913.1:n.785-176_785-169delinsATCAATAG
ENST00000638029.1:c.785-176_785-169delinsATCAATAG	ENSP00000489829.1:n.785-176_785-169delinsATCAATAG
ENST00000664864.1:c.980-176_980-169delinsATCAATAG	ENSP00000499449.1:n.980-176_980-169delinsATCAATAG
ENST00000360228.9:c.785-176_785-169delinsATCAATAG	ENSP00000353362.5:n.785-176_785-169delinsATCAATAG
ENST00000573710.6:c.785-176_785-169delinsATCAATAG	ENSP00000460092.2:n.785-176_785-169delinsATCAATAG
ENST00000593160.1:n.5-176_5-169delinsATCAATAG
ENST00000614285.4:c.785-176_785-169delinsATCAATAG	ENSP00000479983.1:n.785-176_785-169delinsATCAATAG
NM_000068.3:c.785-176_785-169delinsATCAATAG	NP_000059.3:n.785-176_785-169delinsATCAATAG
NM_001127221.1:c.785-176_785-169delinsATCAATAG , LRG_7t1:c.785-176_785-169delinsATCAATAG	NP_001120693.1:n.785-176_785-169delinsATCAATAG
NM_001127222.1:c.785-176_785-169delinsATCAATAG	NP_001120694.1:n.785-176_785-169delinsATCAATAG
NM_001174080.1:c.785-176_785-169delinsATCAATAG	NP_001167551.1:n.785-176_785-169delinsATCAATAG
NM_023035.2:c.785-176_785-169delinsATCAATAG	NP_075461.2:n.785-176_785-169delinsATCAATAG
NM_000068.4:c.785-176_785-169delinsATCAATAG	NP_000059.3:n.785-176_785-169delinsATCAATAG
NM_001127222.2:c.785-176_785-169delinsATCAATAG MANE Select	NP_001120694.1:n.785-176_785-169delinsATCAATAG
NM_001174080.2:c.785-176_785-169delinsATCAATAG	NP_001167551.1:n.785-176_785-169delinsATCAATAG
NM_023035.3:c.785-176_785-169delinsATCAATAG	NP_075461.2:n.785-176_785-169delinsATCAATAG
NM_001127221.2:c.785-176_785-169delinsATCAATAG	NP_001120693.1:n.785-176_785-169delinsATCAATAG