Canonical Allele Identifier: CA2501111392

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201058484_201058485insG , CM000663.2:g.201058484_201058485insG	GRCh38
NC_000001.10:g.201027612_201027613insG , CM000663.1:g.201027612_201027613insG	GRCh37
NC_000001.9:g.199294235_199294236insG	NCBI36
NG_009816.1:g.59082_59083insC
NG_009816.2:g.59082_59083insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3532_3533insC MANE Select	ENSP00000355192.3:p.Phe1178SerfsTer9
ENST00000679417.1:c.*2695_*2696insC	ENSP00000506706.1:n.*2695_*2696insC
ENST00000680051.1:n.658_659insC
ENST00000680059.1:c.*1050_*1051insC	ENSP00000504944.1:n.*1050_*1051insC
ENST00000681078.1:c.3532_3533insC	ENSP00000506645.1:p.Phe1178SerfsTer9
ENST00000681190.1:c.3532_3533insC	ENSP00000506428.1:p.Phe1178SerfsTer9
ENST00000681874.1:c.3472_3473insC	ENSP00000505162.1:p.Phe1158SerfsTer9
ENST00000362061.3:c.3532_3533insC	ENSP00000355192.3:p.Phe1178SerfsTer9
ENST00000367338.7:c.3532_3533insC	ENSP00000356307.3:p.Phe1178SerfsTer9
NM_000069.2:c.3532_3533insC	NP_000060.2:p.Phe1178SerfsTer9
XM_005245478.2:c.3532_3533insC	XP_005245535.1:p.Phe1178SerfsTer9
XM_005245478.3:c.3532_3533insC	XP_005245535.1:p.Phe1178SerfsTer9
NM_000069.3:c.3532_3533insC MANE Select	NP_000060.2:p.Phe1178SerfsTer9