Canonical Allele Identifier: CA505658938

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13207872_13207898del , CM000681.2:g.13207872_13207898del	GRCh38
NC_000019.9:g.13318686_13318712del , CM000681.1:g.13318686_13318712del	GRCh37
NC_000019.8:g.13179686_13179712del	NCBI36
NG_011569.1:g.303576_303602del , LRG_7:g.303576_303602del

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.6949_6975del MANE Select	NP_001120694.1:p.Gln2317_Gln2325del
ENST00000360228.11:c.6949_6975del MANE Select	ENSP00000353362.5:p.Gln2317_Gln2325del
NM_000068.3:c.*161_*187del	NP_000059.3:n.*161_*187del
NM_000068.4:c.*161_*187del	NP_000059.3:n.*161_*187del
NM_001127221.1:c.*161_*187del , LRG_7t1:c.*161_*187del	NP_001120693.1:n.*161_*187del
NM_001127221.2:c.*161_*187del	NP_001120693.1:n.*161_*187del
NM_001127222.1:c.6949_6975del	NP_001120694.1:p.Gln2317_Gln2325del
NM_001174080.1:c.*161_*187del	NP_001167551.1:n.*161_*187del
NM_001174080.2:c.*161_*187del	NP_001167551.1:n.*161_*187del
NM_023035.2:c.6967_6993del	NP_075461.2:p.Gln2323_Gln2331del
NM_023035.3:c.6967_6993del	NP_075461.2:p.Gln2323_Gln2331del
ENST00000360228.9:c.6949_6975del	ENSP00000353362.5:p.Gln2317_Gln2325del
ENST00000573710.6:c.*161_*187del	ENSP00000460092.2:n.*161_*187del
ENST00000573710.7:c.6955_6981del	ENSP00000460092.3:p.Gln2319_Gln2327del
ENST00000585802.5:c.2971_2997del	ENSP00000465598.1:p.Gln991_Gln999del
ENST00000585802.6:c.2074_2100del	ENSP00000465598.2:p.Gln692_Gln700del
ENST00000587525.5:c.2374_2400del	ENSP00000467729.1:p.Gln792_Gln800del
ENST00000614285.4:c.6967_6993del	ENSP00000479983.1:p.Gln2323_Gln2331del
ENST00000635727.1:c.6952_6978del	ENSP00000490001.1:p.Gln2318_Gln2326del
ENST00000635895.1:c.*161_*187del	ENSP00000490323.1:n.*161_*187del
ENST00000636012.1:c.6916_6942del	ENSP00000490223.1:p.Gln2306_Gln2314del
ENST00000636389.1:c.*35_*61del	ENSP00000489992.1:n.*35_*61del
ENST00000637276.1:c.6911_6937del	ENSP00000489777.1:n.6911_6937del
ENST00000637432.1:c.*161_*187del	ENSP00000490617.1:n.*161_*187del
ENST00000637736.1:c.6811_6837del	ENSP00000489861.1:p.Gln2271_Gln2279del
ENST00000637769.1:c.6952_6978del	ENSP00000489778.1:p.Gln2318_Gln2326del
ENST00000638009.2:c.*161_*187del	ENSP00000489913.1:n.*161_*187del
ENST00000638029.1:c.6967_6993del	ENSP00000489829.1:p.Gln2323_Gln2331del