Canonical Allele Identifier: CA1219584660

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201076691_201076693delinsCAA , CM000663.2:g.201076691_201076693delinsCAA	GRCh38
NC_000001.10:g.201045819_201045821delinsCAA , CM000663.1:g.201045819_201045821delinsCAA	GRCh37
NC_000001.9:g.199312442_199312444delinsCAA	NCBI36
NG_009816.1:g.40874_40876delinsTTG
NG_009816.2:g.40874_40876delinsTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1827+227_1827+229delinsTTG MANE Select	ENSP00000355192.3:n.1827+227_1827+229delinsTTG
ENST00000679417.1:c.*990+227_*990+229delinsTTG	ENSP00000506706.1:n.*990+227_*990+229delinsTTG
ENST00000680059.1:c.1827+227_1827+229delinsTTG	ENSP00000504944.1:n.1827+227_1827+229delinsTTG
ENST00000681078.1:c.1827+227_1827+229delinsTTG	ENSP00000506645.1:n.1827+227_1827+229delinsTTG
ENST00000681190.1:c.1827+227_1827+229delinsTTG	ENSP00000506428.1:n.1827+227_1827+229delinsTTG
ENST00000681874.1:c.1827+227_1827+229delinsTTG	ENSP00000505162.1:n.1827+227_1827+229delinsTTG
ENST00000362061.3:c.1827+227_1827+229delinsTTG	ENSP00000355192.3:n.1827+227_1827+229delinsTTG
ENST00000367338.7:c.1827+227_1827+229delinsTTG	ENSP00000356307.3:n.1827+227_1827+229delinsTTG
NM_000069.2:c.1827+227_1827+229delinsTTG	NP_000060.2:n.1827+227_1827+229delinsTTG
XM_005245478.2:c.1827+227_1827+229delinsTTG	XP_005245535.1:n.1827+227_1827+229delinsTTG
XM_005245478.3:c.1827+227_1827+229delinsTTG	XP_005245535.1:n.1827+227_1827+229delinsTTG
NM_000069.3:c.1827+227_1827+229delinsTTG MANE Select	NP_000060.2:n.1827+227_1827+229delinsTTG