Canonical Allele Identifier: CA36005514

Gene: CACNA1S

Linked Data

• dbSNP Id: rs779341921
• gnomAD v2: 1-201027864-ATTG-A
• gnomAD v3: 1-201058736-ATTG-A
• gnomAD v4: 1-201058736-ATTG-A
• MyVariant Identifiers: chr1:g.201027865_201027867del (hg19) ; chr1:g.201058737_201058739del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201058740_201058742del , CM000663.2:g.201058740_201058742del	GRCh38
NC_000001.10:g.201027868_201027870del , CM000663.1:g.201027868_201027870del	GRCh37
NC_000001.9:g.199294491_199294493del	NCBI36
NG_009816.1:g.58828_58830del
NG_009816.2:g.58828_58830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3526-248_3526-246del MANE Select	ENSP00000355192.3:n.3526-248_3526-246del
ENST00000679417.1:c.*2689-248_*2689-246del	ENSP00000506706.1:n.*2689-248_*2689-246del
ENST00000680051.1:n.652-248_652-246del
ENST00000680059.1:c.*1044-248_*1044-246del	ENSP00000504944.1:n.*1044-248_*1044-246del
ENST00000681078.1:c.3526-248_3526-246del	ENSP00000506645.1:n.3526-248_3526-246del
ENST00000681190.1:c.3526-248_3526-246del	ENSP00000506428.1:n.3526-248_3526-246del
ENST00000681874.1:c.3466-248_3466-246del	ENSP00000505162.1:n.3466-248_3466-246del
ENST00000362061.3:c.3526-248_3526-246del	ENSP00000355192.3:n.3526-248_3526-246del
ENST00000367338.7:c.3526-248_3526-246del	ENSP00000356307.3:n.3526-248_3526-246del
NM_000069.2:c.3526-248_3526-246del	NP_000060.2:n.3526-248_3526-246del
XM_005245478.2:c.3526-248_3526-246del	XP_005245535.1:n.3526-248_3526-246del
XM_005245478.3:c.3526-248_3526-246del	XP_005245535.1:n.3526-248_3526-246del
NM_000069.3:c.3526-248_3526-246del MANE Select	NP_000060.2:n.3526-248_3526-246del