Canonical Allele Identifier: CA2580061949

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 2075003
• ClinVar RCV Id: RCV002982367

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077946_201077947delinsTG , CM000663.2:g.201077946_201077947delinsTG	GRCh38
NC_000001.10:g.201047074_201047075delinsTG , CM000663.1:g.201047074_201047075delinsTG	GRCh37
NC_000001.9:g.199313697_199313698delinsTG	NCBI36
NG_009816.1:g.39620_39621delinsCA
NG_009816.2:g.39620_39621delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1551_1552delinsCA MANE Select	ENSP00000355192.3:p.Ala518Thr
ENST00000679417.1:c.*714_*715delinsCA	ENSP00000506706.1:n.*714_*715delinsCA
ENST00000680059.1:c.1551_1552delinsCA	ENSP00000504944.1:p.Ala518Thr
ENST00000681078.1:c.1551_1552delinsCA	ENSP00000506645.1:p.Ala518Thr
ENST00000681190.1:c.1551_1552delinsCA	ENSP00000506428.1:p.Ala518Thr
ENST00000681874.1:c.1551_1552delinsCA	ENSP00000505162.1:p.Ala518Thr
ENST00000362061.3:c.1551_1552delinsCA	ENSP00000355192.3:p.Ala518Thr
ENST00000367338.7:c.1551_1552delinsCA	ENSP00000356307.3:p.Ala518Thr
NM_000069.2:c.1551_1552delinsCA	NP_000060.2:p.Ala518Thr
XM_005245478.2:c.1551_1552delinsCA	XP_005245535.1:p.Ala518Thr
XM_005245478.3:c.1551_1552delinsCA	XP_005245535.1:p.Ala518Thr
NM_000069.3:c.1551_1552delinsCA MANE Select	NP_000060.2:p.Ala518Thr