Canonical Allele Identifier: CA1219585334

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201078318_201078329delinsATCAAGTGATCC , CM000663.2:g.201078318_201078329delinsATCAAGTGATCC	GRCh38
NC_000001.10:g.201047446_201047457delinsATCAAGTGATCC , CM000663.1:g.201047446_201047457delinsATCAAGTGATCC	GRCh37
NC_000001.9:g.199314069_199314080delinsATCAAGTGATCC	NCBI36
NG_009816.1:g.39238_39249delinsGGATCACTTGAT
NG_009816.2:g.39238_39249delinsGGATCACTTGAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1394-225_1394-214delinsGGATCACTTGAT MANE Select	ENSP00000355192.3:n.1394-225_1394-214delinsGGATCACTTGAT
ENST00000679417.1:c.*557-225_*557-214delinsGGATCACTTGAT	ENSP00000506706.1:n.*557-225_*557-214delinsGGATCACTTGAT
ENST00000680059.1:c.1394-225_1394-214delinsGGATCACTTGAT	ENSP00000504944.1:n.1394-225_1394-214delinsGGATCACTTGAT
ENST00000681078.1:c.1394-225_1394-214delinsGGATCACTTGAT	ENSP00000506645.1:n.1394-225_1394-214delinsGGATCACTTGAT
ENST00000681190.1:c.1394-225_1394-214delinsGGATCACTTGAT	ENSP00000506428.1:n.1394-225_1394-214delinsGGATCACTTGAT
ENST00000681874.1:c.1394-225_1394-214delinsGGATCACTTGAT	ENSP00000505162.1:n.1394-225_1394-214delinsGGATCACTTGAT
ENST00000362061.3:c.1394-225_1394-214delinsGGATCACTTGAT	ENSP00000355192.3:n.1394-225_1394-214delinsGGATCACTTGAT
ENST00000367338.7:c.1394-225_1394-214delinsGGATCACTTGAT	ENSP00000356307.3:n.1394-225_1394-214delinsGGATCACTTGAT
NM_000069.2:c.1394-225_1394-214delinsGGATCACTTGAT	NP_000060.2:n.1394-225_1394-214delinsGGATCACTTGAT
XM_005245478.2:c.1394-225_1394-214delinsGGATCACTTGAT	XP_005245535.1:n.1394-225_1394-214delinsGGATCACTTGAT
XM_005245478.3:c.1394-225_1394-214delinsGGATCACTTGAT	XP_005245535.1:n.1394-225_1394-214delinsGGATCACTTGAT
NM_000069.3:c.1394-225_1394-214delinsGGATCACTTGAT MANE Select	NP_000060.2:n.1394-225_1394-214delinsGGATCACTTGAT