Canonical Allele Identifier: CA528536710

Gene: CACNA1S

Linked Data

• dbSNP Id: rs1449933404
• gnomAD v2: 1-201046355-C-CA
• gnomAD v3: 1-201077227-C-CA
• gnomAD v4: 1-201077227-C-CA
• MyVariant Identifiers: chr1:g.201046355_201046356insA (hg19) ; chr1:g.201077227_201077228insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077228dup , CM000663.2:g.201077228dup	GRCh38
NC_000001.10:g.201046356dup , CM000663.1:g.201046356dup	GRCh37
NC_000001.9:g.199312979dup	NCBI36
NG_009816.1:g.40339dup
NG_009816.2:g.40339dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1620-101dup MANE Select	ENSP00000355192.3:n.1620-101dup
ENST00000679417.1:c.*783-101dup	ENSP00000506706.1:n.*783-101dup
ENST00000680059.1:c.1620-101dup	ENSP00000504944.1:n.1620-101dup
ENST00000681078.1:c.1620-101dup	ENSP00000506645.1:n.1620-101dup
ENST00000681190.1:c.1620-101dup	ENSP00000506428.1:n.1620-101dup
ENST00000681874.1:c.1620-101dup	ENSP00000505162.1:n.1620-101dup
ENST00000362061.3:c.1620-101dup	ENSP00000355192.3:n.1620-101dup
ENST00000367338.7:c.1620-101dup	ENSP00000356307.3:n.1620-101dup
NM_000069.2:c.1620-101dup	NP_000060.2:n.1620-101dup
XM_005245478.2:c.1620-101dup	XP_005245535.1:n.1620-101dup
XM_005245478.3:c.1620-101dup	XP_005245535.1:n.1620-101dup
NM_000069.3:c.1620-101dup MANE Select	NP_000060.2:n.1620-101dup