Canonical Allele Identifier: CA1219585243

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201078143_201078144delinsTC , CM000663.2:g.201078143_201078144delinsTC	GRCh38
NC_000001.10:g.201047271_201047272delinsTC , CM000663.1:g.201047271_201047272delinsTC	GRCh37
NC_000001.9:g.199313894_199313895delinsTC	NCBI36
NG_009816.1:g.39423_39424delinsGA
NG_009816.2:g.39423_39424delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1394-40_1394-39delinsGA MANE Select	ENSP00000355192.3:n.1394-40_1394-39delinsGA
ENST00000679417.1:c.*557-40_*557-39delinsGA	ENSP00000506706.1:n.*557-40_*557-39delinsGA
ENST00000680059.1:c.1394-40_1394-39delinsGA	ENSP00000504944.1:n.1394-40_1394-39delinsGA
ENST00000681078.1:c.1394-40_1394-39delinsGA	ENSP00000506645.1:n.1394-40_1394-39delinsGA
ENST00000681190.1:c.1394-40_1394-39delinsGA	ENSP00000506428.1:n.1394-40_1394-39delinsGA
ENST00000681874.1:c.1394-40_1394-39delinsGA	ENSP00000505162.1:n.1394-40_1394-39delinsGA
ENST00000362061.3:c.1394-40_1394-39delinsGA	ENSP00000355192.3:n.1394-40_1394-39delinsGA
ENST00000367338.7:c.1394-40_1394-39delinsGA	ENSP00000356307.3:n.1394-40_1394-39delinsGA
NM_000069.2:c.1394-40_1394-39delinsGA	NP_000060.2:n.1394-40_1394-39delinsGA
XM_005245478.2:c.1394-40_1394-39delinsGA	XP_005245535.1:n.1394-40_1394-39delinsGA
XM_005245478.3:c.1394-40_1394-39delinsGA	XP_005245535.1:n.1394-40_1394-39delinsGA
NM_000069.3:c.1394-40_1394-39delinsGA MANE Select	NP_000060.2:n.1394-40_1394-39delinsGA