Canonical Allele Identifier: CA730074985

Gene: CACNA1S

Linked Data

• dbSNP Id: rs1199783329
• MyVariant Identifiers: chr1:g.201046807_201046808insG (hg19) ; chr1:g.201077679_201077680insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077679_201077680insG , CM000663.2:g.201077679_201077680insG	GRCh38
NC_000001.10:g.201046807_201046808insG , CM000663.1:g.201046807_201046808insG	GRCh37
NC_000001.9:g.199313430_199313431insG	NCBI36
NG_009816.1:g.39887_39888insC
NG_009816.2:g.39887_39888insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1619+199_1619+200insC MANE Select	ENSP00000355192.3:n.1619+199_1619+200insC
ENST00000679417.1:c.*782+199_*782+200insC	ENSP00000506706.1:n.*782+199_*782+200insC
ENST00000680059.1:c.1619+199_1619+200insC	ENSP00000504944.1:n.1619+199_1619+200insC
ENST00000681078.1:c.1619+199_1619+200insC	ENSP00000506645.1:n.1619+199_1619+200insC
ENST00000681190.1:c.1619+199_1619+200insC	ENSP00000506428.1:n.1619+199_1619+200insC
ENST00000681874.1:c.1619+199_1619+200insC	ENSP00000505162.1:n.1619+199_1619+200insC
ENST00000362061.3:c.1619+199_1619+200insC	ENSP00000355192.3:n.1619+199_1619+200insC
ENST00000367338.7:c.1619+199_1619+200insC	ENSP00000356307.3:n.1619+199_1619+200insC
NM_000069.2:c.1619+199_1619+200insC	NP_000060.2:n.1619+199_1619+200insC
XM_005245478.2:c.1619+199_1619+200insC	XP_005245535.1:n.1619+199_1619+200insC
XM_005245478.3:c.1619+199_1619+200insC	XP_005245535.1:n.1619+199_1619+200insC
NM_000069.3:c.1619+199_1619+200insC MANE Select	NP_000060.2:n.1619+199_1619+200insC