Canonical Allele Identifier: CA2649766179
Gene: CACNA1S HGNC NCBI

Linked Data

gnomAD v4: 1-201076833-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201076835del , CM000663.2:g.201076835del GRCh38
NC_000001.10:g.201045963del , CM000663.1:g.201045963del GRCh37
NC_000001.9:g.199312586del NCBI36
NG_009816.1:g.40733del
NG_009816.2:g.40733del

Transcript Alleles

HGVS Amino-acid change
ENST00000362061.4:c.1827+86del MANE Select ENSP00000355192.3:n.1827+86del
ENST00000679417.1:c.*990+86del ENSP00000506706.1:n.*990+86del
ENST00000680059.1:c.1827+86del ENSP00000504944.1:n.1827+86del
ENST00000681078.1:c.1827+86del ENSP00000506645.1:n.1827+86del
ENST00000681190.1:c.1827+86del ENSP00000506428.1:n.1827+86del
ENST00000681874.1:c.1827+86del ENSP00000505162.1:n.1827+86del
ENST00000362061.3:c.1827+86del ENSP00000355192.3:n.1827+86del
ENST00000367338.7:c.1827+86del ENSP00000356307.3:n.1827+86del
NM_000069.2:c.1827+86del NP_000060.2:n.1827+86del
XM_005245478.2:c.1827+86del XP_005245535.1:n.1827+86del
XM_005245478.3:c.1827+86del XP_005245535.1:n.1827+86del
NM_000069.3:c.1827+86del MANE Select NP_000060.2:n.1827+86del
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