Canonical Allele Identifier: CA2582818960

Gene: CACNA1A

Linked Data

• gnomAD v4: 19-13235349-G-GGGGCAGAGCACTGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13235349_13235350insGGGCAGAGCACTGGGA , CM000681.2:g.13235349_13235350insGGGCAGAGCACTGGGA	GRCh38
NC_000019.9:g.13346163_13346164insGGGCAGAGCACTGGGA , CM000681.1:g.13346163_13346164insGGGCAGAGCACTGGGA	GRCh37
NC_000019.8:g.13207163_13207164insGGGCAGAGCACTGGGA	NCBI36
NG_011569.1:g.276111_276112insTCCCAGTGCTCTGCCC , LRG_7:g.276111_276112insTCCCAGTGCTCTGCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360228.11:c.5068-76_5068-75insTCCCAGTGCTCTGCCC MANE Select	ENSP00000353362.5:n.5068-76_5068-75insTCCCAGTGCTCTGCCC
ENST00000573710.7:c.5074-76_5074-75insTCCCAGTGCTCTGCCC	ENSP00000460092.3:n.5074-76_5074-75insTCCCAGTGCTCTGCCC
ENST00000573891.6:c.487-76_487-75insTCCCAGTGCTCTGCCC
ENST00000574822.6:n.292-76_292-75insTCCCAGTGCTCTGCCC
ENST00000585802.6:c.229-76_229-75insTCCCAGTGCTCTGCCC	ENSP00000465598.2:n.229-76_229-75insTCCCAGTGCTCTGCCC
ENST00000593267.2:n.273-76_273-75insTCCCAGTGCTCTGCCC
ENST00000635727.1:c.5071-76_5071-75insTCCCAGTGCTCTGCCC	ENSP00000490001.1:n.5071-76_5071-75insTCCCAGTGCTCTGCCC
ENST00000635742.1:n.1057-76_1057-75insTCCCAGTGCTCTGCCC
ENST00000635895.1:c.5071-76_5071-75insTCCCAGTGCTCTGCCC	ENSP00000490323.1:n.5071-76_5071-75insTCCCAGTGCTCTGCCC
ENST00000636012.1:c.5071-76_5071-75insTCCCAGTGCTCTGCCC	ENSP00000490223.1:n.5071-76_5071-75insTCCCAGTGCTCTGCCC
ENST00000636058.1:c.383-76_383-75insTCCCAGTGCTCTGCCC
ENST00000636389.1:c.5071-76_5071-75insTCCCAGTGCTCTGCCC	ENSP00000489992.1:n.5071-76_5071-75insTCCCAGTGCTCTGCCC
ENST00000636473.1:c.228+264_228+265insTCCCAGTGCTCTGCCC	ENSP00000490173.1:n.228+264_228+265insTCCCAGTGCTCTGCCC
ENST00000636549.1:c.5077-76_5077-75insTCCCAGTGCTCTGCCC	ENSP00000490578.1:n.5077-76_5077-75insTCCCAGTGCTCTGCCC
ENST00000637276.1:c.5071-76_5071-75insTCCCAGTGCTCTGCCC	ENSP00000489777.1:n.5071-76_5071-75insTCCCAGTGCTCTGCCC
ENST00000637297.1:c.364-76_364-75insTCCCAGTGCTCTGCCC	ENSP00000489692.1:n.364-76_364-75insTCCCAGTGCTCTGCCC
ENST00000637432.1:c.5086-76_5086-75insTCCCAGTGCTCTGCCC	ENSP00000490617.1:n.5086-76_5086-75insTCCCAGTGCTCTGCCC
ENST00000637736.1:c.4930-76_4930-75insTCCCAGTGCTCTGCCC	ENSP00000489861.1:n.4930-76_4930-75insTCCCAGTGCTCTGCCC
ENST00000637769.1:c.5071-76_5071-75insTCCCAGTGCTCTGCCC	ENSP00000489778.1:n.5071-76_5071-75insTCCCAGTGCTCTGCCC
ENST00000637777.1:c.327+264_327+265insTCCCAGTGCTCTGCCC
ENST00000637809.1:n.461-76_461-75insTCCCAGTGCTCTGCCC
ENST00000637819.1:c.472-76_472-75insTCCCAGTGCTCTGCCC	ENSP00000490686.1:n.472-76_472-75insTCCCAGTGCTCTGCCC
ENST00000637832.1:n.62-76_62-75insTCCCAGTGCTCTGCCC
ENST00000637927.1:c.5074-76_5074-75insTCCCAGTGCTCTGCCC	ENSP00000489715.1:n.5074-76_5074-75insTCCCAGTGCTCTGCCC
ENST00000638009.2:c.5071-76_5071-75insTCCCAGTGCTCTGCCC	ENSP00000489913.1:n.5071-76_5071-75insTCCCAGTGCTCTGCCC
ENST00000638029.1:c.5086-76_5086-75insTCCCAGTGCTCTGCCC	ENSP00000489829.1:n.5086-76_5086-75insTCCCAGTGCTCTGCCC
ENST00000664864.1:c.5272-76_5272-75insTCCCAGTGCTCTGCCC	ENSP00000499449.1:n.5272-76_5272-75insTCCCAGTGCTCTGCCC
ENST00000360228.9:c.5068-76_5068-75insTCCCAGTGCTCTGCCC	ENSP00000353362.5:n.5068-76_5068-75insTCCCAGTGCTCTGCCC
ENST00000573710.6:c.5071-76_5071-75insTCCCAGTGCTCTGCCC	ENSP00000460092.2:n.5071-76_5071-75insTCCCAGTGCTCTGCCC
ENST00000573891.5:c.487-76_487-75insTCCCAGTGCTCTGCCC
ENST00000574822.5:n.292-76_292-75insTCCCAGTGCTCTGCCC
ENST00000585802.5:c.1126-76_1126-75insTCCCAGTGCTCTGCCC	ENSP00000465598.1:n.1126-76_1126-75insTCCCAGTGCTCTGCCC
ENST00000587525.5:c.529-76_529-75insTCCCAGTGCTCTGCCC	ENSP00000467729.1:n.529-76_529-75insTCCCAGTGCTCTGCCC
ENST00000593267.1:n.273-76_273-75insTCCCAGTGCTCTGCCC
ENST00000614285.4:c.5086-76_5086-75insTCCCAGTGCTCTGCCC	ENSP00000479983.1:n.5086-76_5086-75insTCCCAGTGCTCTGCCC
NM_000068.3:c.5086-76_5086-75insTCCCAGTGCTCTGCCC	NP_000059.3:n.5086-76_5086-75insTCCCAGTGCTCTGCCC
NM_001127221.1:c.5071-76_5071-75insTCCCAGTGCTCTGCCC , LRG_7t1:c.5071-76_5071-75insTCCCAGTGCTCTGCCC	NP_001120693.1:n.5071-76_5071-75insTCCCAGTGCTCTGCCC
NM_001127222.1:c.5068-76_5068-75insTCCCAGTGCTCTGCCC	NP_001120694.1:n.5068-76_5068-75insTCCCAGTGCTCTGCCC
NM_001174080.1:c.5077-76_5077-75insTCCCAGTGCTCTGCCC	NP_001167551.1:n.5077-76_5077-75insTCCCAGTGCTCTGCCC
NM_023035.2:c.5086-76_5086-75insTCCCAGTGCTCTGCCC	NP_075461.2:n.5086-76_5086-75insTCCCAGTGCTCTGCCC
NM_000068.4:c.5086-76_5086-75insTCCCAGTGCTCTGCCC	NP_000059.3:n.5086-76_5086-75insTCCCAGTGCTCTGCCC
NM_001127222.2:c.5068-76_5068-75insTCCCAGTGCTCTGCCC MANE Select	NP_001120694.1:n.5068-76_5068-75insTCCCAGTGCTCTGCCC
NM_001174080.2:c.5077-76_5077-75insTCCCAGTGCTCTGCCC	NP_001167551.1:n.5077-76_5077-75insTCCCAGTGCTCTGCCC
NM_023035.3:c.5086-76_5086-75insTCCCAGTGCTCTGCCC	NP_075461.2:n.5086-76_5086-75insTCCCAGTGCTCTGCCC
NM_001127221.2:c.5071-76_5071-75insTCCCAGTGCTCTGCCC	NP_001120693.1:n.5071-76_5071-75insTCCCAGTGCTCTGCCC