Canonical Allele Identifier: CA2740215431

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075553_201075554insT , CM000663.2:g.201075553_201075554insT	GRCh38
NC_000001.10:g.201044681_201044682insT , CM000663.1:g.201044681_201044682insT	GRCh37
NC_000001.9:g.199311304_199311305insT	NCBI36
NG_009816.1:g.42013_42014insA
NG_009816.2:g.42013_42014insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1889_1890insA MANE Select	ENSP00000355192.3:p.Ser631ValfsTer?
ENST00000679417.1:c.*1052_*1053insA	ENSP00000506706.1:n.*1052_*1053insA
ENST00000680059.1:c.1889_1890insA	ENSP00000504944.1:p.Ser631ValfsTer?
ENST00000681078.1:c.1889_1890insA	ENSP00000506645.1:p.Ser631ValfsTer?
ENST00000681190.1:c.1889_1890insA	ENSP00000506428.1:p.Ser631ValfsTer?
ENST00000681874.1:c.1889_1890insA	ENSP00000505162.1:p.Ser631ValfsTer?
ENST00000362061.3:c.1889_1890insA	ENSP00000355192.3:p.Ser631ValfsTer?
ENST00000367338.7:c.1889_1890insA	ENSP00000356307.3:p.Ser631ValfsTer?
NM_000069.2:c.1889_1890insA	NP_000060.2:p.Ser631ValfsTer?
XM_005245478.2:c.1889_1890insA	XP_005245535.1:p.Ser631ValfsTer?
XM_005245478.3:c.1889_1890insA	XP_005245535.1:p.Ser631ValfsTer?
NM_000069.3:c.1889_1890insA MANE Select	NP_000060.2:p.Ser631ValfsTer?