Canonical Allele Identifier: CA2649766176

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201076830-GGAGAAGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201076833_201076840del , CM000663.2:g.201076833_201076840del	GRCh38
NC_000001.10:g.201045961_201045968del , CM000663.1:g.201045961_201045968del	GRCh37
NC_000001.9:g.199312584_199312591del	NCBI36
NG_009816.1:g.40729_40736del
NG_009816.2:g.40729_40736del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1827+82_1827+89del MANE Select	ENSP00000355192.3:n.1827+82_1827+89del
ENST00000679417.1:c.*990+82_*990+89del	ENSP00000506706.1:n.*990+82_*990+89del
ENST00000680059.1:c.1827+82_1827+89del	ENSP00000504944.1:n.1827+82_1827+89del
ENST00000681078.1:c.1827+82_1827+89del	ENSP00000506645.1:n.1827+82_1827+89del
ENST00000681190.1:c.1827+82_1827+89del	ENSP00000506428.1:n.1827+82_1827+89del
ENST00000681874.1:c.1827+82_1827+89del	ENSP00000505162.1:n.1827+82_1827+89del
ENST00000362061.3:c.1827+82_1827+89del	ENSP00000355192.3:n.1827+82_1827+89del
ENST00000367338.7:c.1827+82_1827+89del	ENSP00000356307.3:n.1827+82_1827+89del
NM_000069.2:c.1827+82_1827+89del	NP_000060.2:n.1827+82_1827+89del
XM_005245478.2:c.1827+82_1827+89del	XP_005245535.1:n.1827+82_1827+89del
XM_005245478.3:c.1827+82_1827+89del	XP_005245535.1:n.1827+82_1827+89del
NM_000069.3:c.1827+82_1827+89del MANE Select	NP_000060.2:n.1827+82_1827+89del