Canonical Allele Identifier: CA1219577749

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201058720_201058721delinsTG , CM000663.2:g.201058720_201058721delinsTG	GRCh38
NC_000001.10:g.201027848_201027849delinsTG , CM000663.1:g.201027848_201027849delinsTG	GRCh37
NC_000001.9:g.199294471_199294472delinsTG	NCBI36
NG_009816.1:g.58846_58847delinsCA
NG_009816.2:g.58846_58847delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3526-230_3526-229delinsCA MANE Select	ENSP00000355192.3:n.3526-230_3526-229delinsCA
ENST00000679417.1:c.*2689-230_*2689-229delinsCA	ENSP00000506706.1:n.*2689-230_*2689-229delinsCA
ENST00000680051.1:n.652-230_652-229delinsCA
ENST00000680059.1:c.*1044-230_*1044-229delinsCA	ENSP00000504944.1:n.*1044-230_*1044-229delinsCA
ENST00000681078.1:c.3526-230_3526-229delinsCA	ENSP00000506645.1:n.3526-230_3526-229delinsCA
ENST00000681190.1:c.3526-230_3526-229delinsCA	ENSP00000506428.1:n.3526-230_3526-229delinsCA
ENST00000681874.1:c.3466-230_3466-229delinsCA	ENSP00000505162.1:n.3466-230_3466-229delinsCA
ENST00000362061.3:c.3526-230_3526-229delinsCA	ENSP00000355192.3:n.3526-230_3526-229delinsCA
ENST00000367338.7:c.3526-230_3526-229delinsCA	ENSP00000356307.3:n.3526-230_3526-229delinsCA
NM_000069.2:c.3526-230_3526-229delinsCA	NP_000060.2:n.3526-230_3526-229delinsCA
XM_005245478.2:c.3526-230_3526-229delinsCA	XP_005245535.1:n.3526-230_3526-229delinsCA
XM_005245478.3:c.3526-230_3526-229delinsCA	XP_005245535.1:n.3526-230_3526-229delinsCA
NM_000069.3:c.3526-230_3526-229delinsCA MANE Select	NP_000060.2:n.3526-230_3526-229delinsCA