Canonical Allele Identifier: CA2740215436

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075588_201075589insGGCC , CM000663.2:g.201075588_201075589insGGCC	GRCh38
NC_000001.10:g.201044716_201044717insGGCC , CM000663.1:g.201044716_201044717insGGCC	GRCh37
NC_000001.9:g.199311339_199311340insGGCC	NCBI36
NG_009816.1:g.41978_41979insGGCC
NG_009816.2:g.41978_41979insGGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1854_1855insGGCC MANE Select	ENSP00000355192.3:p.Met619GlyfsTer?
ENST00000679417.1:c.*1017_*1018insGGCC	ENSP00000506706.1:n.*1017_*1018insGGCC
ENST00000680059.1:c.1854_1855insGGCC	ENSP00000504944.1:p.Met619GlyfsTer?
ENST00000681078.1:c.1854_1855insGGCC	ENSP00000506645.1:p.Met619GlyfsTer?
ENST00000681190.1:c.1854_1855insGGCC	ENSP00000506428.1:p.Met619GlyfsTer?
ENST00000681874.1:c.1854_1855insGGCC	ENSP00000505162.1:p.Met619GlyfsTer?
ENST00000362061.3:c.1854_1855insGGCC	ENSP00000355192.3:p.Met619GlyfsTer?
ENST00000367338.7:c.1854_1855insGGCC	ENSP00000356307.3:p.Met619GlyfsTer?
NM_000069.2:c.1854_1855insGGCC	NP_000060.2:p.Met619GlyfsTer?
XM_005245478.2:c.1854_1855insGGCC	XP_005245535.1:p.Met619GlyfsTer?
XM_005245478.3:c.1854_1855insGGCC	XP_005245535.1:p.Met619GlyfsTer?
NM_000069.3:c.1854_1855insGGCC MANE Select	NP_000060.2:p.Met619GlyfsTer?