Canonical Allele Identifier: CA1219585129

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077857_201077858delinsGC , CM000663.2:g.201077857_201077858delinsGC	GRCh38
NC_000001.10:g.201046985_201046986delinsGC , CM000663.1:g.201046985_201046986delinsGC	GRCh37
NC_000001.9:g.199313608_199313609delinsGC	NCBI36
NG_009816.1:g.39709_39710delinsGC
NG_009816.2:g.39709_39710delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1619+21_1619+22delinsGC MANE Select	ENSP00000355192.3:n.1619+21_1619+22delinsGC
ENST00000679417.1:c.*782+21_*782+22delinsGC	ENSP00000506706.1:n.*782+21_*782+22delinsGC
ENST00000680059.1:c.1619+21_1619+22delinsGC	ENSP00000504944.1:n.1619+21_1619+22delinsGC
ENST00000681078.1:c.1619+21_1619+22delinsGC	ENSP00000506645.1:n.1619+21_1619+22delinsGC
ENST00000681190.1:c.1619+21_1619+22delinsGC	ENSP00000506428.1:n.1619+21_1619+22delinsGC
ENST00000681874.1:c.1619+21_1619+22delinsGC	ENSP00000505162.1:n.1619+21_1619+22delinsGC
ENST00000362061.3:c.1619+21_1619+22delinsGC	ENSP00000355192.3:n.1619+21_1619+22delinsGC
ENST00000367338.7:c.1619+21_1619+22delinsGC	ENSP00000356307.3:n.1619+21_1619+22delinsGC
NM_000069.2:c.1619+21_1619+22delinsGC	NP_000060.2:n.1619+21_1619+22delinsGC
XM_005245478.2:c.1619+21_1619+22delinsGC	XP_005245535.1:n.1619+21_1619+22delinsGC
XM_005245478.3:c.1619+21_1619+22delinsGC	XP_005245535.1:n.1619+21_1619+22delinsGC
NM_000069.3:c.1619+21_1619+22delinsGC MANE Select	NP_000060.2:n.1619+21_1619+22delinsGC