Canonical Allele Identifier: CA1219574641

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075618_201075631delinsGTATGGAGGGAGGA , CM000663.2:g.201075618_201075631delinsGTATGGAGGGAGGA	GRCh38
NC_000001.10:g.201044746_201044759delinsGTATGGAGGGAGGA , CM000663.1:g.201044746_201044759delinsGTATGGAGGGAGGA	GRCh37
NC_000001.9:g.199311369_199311382delinsGTATGGAGGGAGGA	NCBI36
NG_009816.1:g.41936_41949delinsTCCTCCCTCCATAC
NG_009816.2:g.41936_41949delinsTCCTCCCTCCATAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1828-16_1828-3delinsTCCTCCCTCCATAC MANE Select	ENSP00000355192.3:n.1828-16_1828-3delinsTCCTCCCTCCATAC
ENST00000679417.1:c.*991-16_*991-3delinsTCCTCCCTCCATAC	ENSP00000506706.1:n.*991-16_*991-3delinsTCCTCCCTCCATAC
ENST00000680059.1:c.1828-16_1828-3delinsTCCTCCCTCCATAC	ENSP00000504944.1:n.1828-16_1828-3delinsTCCTCCCTCCATAC
ENST00000681078.1:c.1828-16_1828-3delinsTCCTCCCTCCATAC	ENSP00000506645.1:n.1828-16_1828-3delinsTCCTCCCTCCATAC
ENST00000681190.1:c.1828-16_1828-3delinsTCCTCCCTCCATAC	ENSP00000506428.1:n.1828-16_1828-3delinsTCCTCCCTCCATAC
ENST00000681874.1:c.1828-16_1828-3delinsTCCTCCCTCCATAC	ENSP00000505162.1:n.1828-16_1828-3delinsTCCTCCCTCCATAC
ENST00000362061.3:c.1828-16_1828-3delinsTCCTCCCTCCATAC	ENSP00000355192.3:n.1828-16_1828-3delinsTCCTCCCTCCATAC
ENST00000367338.7:c.1828-16_1828-3delinsTCCTCCCTCCATAC	ENSP00000356307.3:n.1828-16_1828-3delinsTCCTCCCTCCATAC
NM_000069.2:c.1828-16_1828-3delinsTCCTCCCTCCATAC	NP_000060.2:n.1828-16_1828-3delinsTCCTCCCTCCATAC
XM_005245478.2:c.1828-16_1828-3delinsTCCTCCCTCCATAC	XP_005245535.1:n.1828-16_1828-3delinsTCCTCCCTCCATAC
XM_005245478.3:c.1828-16_1828-3delinsTCCTCCCTCCATAC	XP_005245535.1:n.1828-16_1828-3delinsTCCTCCCTCCATAC
NM_000069.3:c.1828-16_1828-3delinsTCCTCCCTCCATAC MANE Select	NP_000060.2:n.1828-16_1828-3delinsTCCTCCCTCCATAC