Canonical Allele Identifier: CA2649763464

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201078173-G-GAGTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201078173_201078174insAGTCA , CM000663.2:g.201078173_201078174insAGTCA	GRCh38
NC_000001.10:g.201047301_201047302insAGTCA , CM000663.1:g.201047301_201047302insAGTCA	GRCh37
NC_000001.9:g.199313924_199313925insAGTCA	NCBI36
NG_009816.1:g.39393_39394insTGACT
NG_009816.2:g.39393_39394insTGACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1394-70_1394-69insTGACT MANE Select	ENSP00000355192.3:n.1394-70_1394-69insTGACT
ENST00000679417.1:c.*557-70_*557-69insTGACT	ENSP00000506706.1:n.*557-70_*557-69insTGACT
ENST00000680059.1:c.1394-70_1394-69insTGACT	ENSP00000504944.1:n.1394-70_1394-69insTGACT
ENST00000681078.1:c.1394-70_1394-69insTGACT	ENSP00000506645.1:n.1394-70_1394-69insTGACT
ENST00000681190.1:c.1394-70_1394-69insTGACT	ENSP00000506428.1:n.1394-70_1394-69insTGACT
ENST00000681874.1:c.1394-70_1394-69insTGACT	ENSP00000505162.1:n.1394-70_1394-69insTGACT
ENST00000362061.3:c.1394-70_1394-69insTGACT	ENSP00000355192.3:n.1394-70_1394-69insTGACT
ENST00000367338.7:c.1394-70_1394-69insTGACT	ENSP00000356307.3:n.1394-70_1394-69insTGACT
NM_000069.2:c.1394-70_1394-69insTGACT	NP_000060.2:n.1394-70_1394-69insTGACT
XM_005245478.2:c.1394-70_1394-69insTGACT	XP_005245535.1:n.1394-70_1394-69insTGACT
XM_005245478.3:c.1394-70_1394-69insTGACT	XP_005245535.1:n.1394-70_1394-69insTGACT
NM_000069.3:c.1394-70_1394-69insTGACT MANE Select	NP_000060.2:n.1394-70_1394-69insTGACT