Canonical Allele Identifier: CA2841349031
Gene: CACNA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13298724_13298726del , CM000681.2:g.13298724_13298726del GRCh38
NC_000019.9:g.13409538_13409540del , CM000681.1:g.13409538_13409540del GRCh37
NC_000019.8:g.13270538_13270540del NCBI36
NG_011569.1:g.212738_212740del , LRG_7:g.212738_212740del

Transcript Alleles

HGVS Amino-acid Change
ENST00000360228.11:c.2910_2912del MANE Select ENSP00000353362.5:p.Glu970del
ENST00000573710.7:c.2916_2918del ENSP00000460092.3:p.Glu972del
ENST00000635727.1:c.2913_2915del ENSP00000490001.1:p.Glu971del
ENST00000635895.1:c.2913_2915del ENSP00000490323.1:p.Glu971del
ENST00000636012.1:c.2913_2915del ENSP00000490223.1:p.Glu971del
ENST00000636389.1:c.2913_2915del ENSP00000489992.1:p.Glu971del
ENST00000636549.1:c.2913_2915del ENSP00000490578.1:p.Glu971del
ENST00000637276.1:c.2913_2915del ENSP00000489777.1:p.Glu971del
ENST00000637432.1:c.2922_2924del ENSP00000490617.1:p.Glu974del
ENST00000637736.1:c.2772_2774del ENSP00000489861.1:p.Glu924del
ENST00000637769.1:c.2913_2915del ENSP00000489778.1:p.Glu971del
ENST00000637927.1:c.2916_2918del ENSP00000489715.1:p.Glu972del
ENST00000638009.2:c.2913_2915del ENSP00000489913.1:p.Glu971del
ENST00000638029.1:c.2922_2924del ENSP00000489829.1:p.Glu974del
ENST00000664864.1:c.3108_3110del ENSP00000499449.1:p.Glu1036del
ENST00000360228.9:c.2910_2912del ENSP00000353362.5:p.Glu970del
ENST00000573710.6:c.2913_2915del ENSP00000460092.2:p.Glu971del
ENST00000614285.4:c.2922_2924del ENSP00000479983.1:p.Glu974del
NM_000068.3:c.2922_2924del NP_000059.3:p.Glu974del
NM_001127221.1:c.2913_2915del , LRG_7t1:c.2913_2915del NP_001120693.1:p.Glu971del
NM_001127222.1:c.2910_2912del NP_001120694.1:p.Glu970del
NM_001174080.1:c.2913_2915del NP_001167551.1:p.Glu971del
NM_023035.2:c.2922_2924del NP_075461.2:p.Glu974del
NM_000068.4:c.2922_2924del NP_000059.3:p.Glu974del
NM_001127222.2:c.2910_2912del MANE Select NP_001120694.1:p.Glu970del
NM_001174080.2:c.2913_2915del NP_001167551.1:p.Glu971del
NM_023035.3:c.2922_2924del NP_075461.2:p.Glu974del
NM_001127221.2:c.2913_2915del NP_001120693.1:p.Glu971del