Canonical Allele Identifier: CA2649763529

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201078242-GGGGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201078246_201078251del , CM000663.2:g.201078246_201078251del	GRCh38
NC_000001.10:g.201047374_201047379del , CM000663.1:g.201047374_201047379del	GRCh37
NC_000001.9:g.199313997_199314002del	NCBI36
NG_009816.1:g.39319_39324del
NG_009816.2:g.39319_39324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1394-144_1394-139del MANE Select	ENSP00000355192.3:n.1394-144_1394-139del
ENST00000679417.1:c.*557-144_*557-139del	ENSP00000506706.1:n.*557-144_*557-139del
ENST00000680059.1:c.1394-144_1394-139del	ENSP00000504944.1:n.1394-144_1394-139del
ENST00000681078.1:c.1394-144_1394-139del	ENSP00000506645.1:n.1394-144_1394-139del
ENST00000681190.1:c.1394-144_1394-139del	ENSP00000506428.1:n.1394-144_1394-139del
ENST00000681874.1:c.1394-144_1394-139del	ENSP00000505162.1:n.1394-144_1394-139del
ENST00000362061.3:c.1394-144_1394-139del	ENSP00000355192.3:n.1394-144_1394-139del
ENST00000367338.7:c.1394-144_1394-139del	ENSP00000356307.3:n.1394-144_1394-139del
NM_000069.2:c.1394-144_1394-139del	NP_000060.2:n.1394-144_1394-139del
XM_005245478.2:c.1394-144_1394-139del	XP_005245535.1:n.1394-144_1394-139del
XM_005245478.3:c.1394-144_1394-139del	XP_005245535.1:n.1394-144_1394-139del
NM_000069.3:c.1394-144_1394-139del MANE Select	NP_000060.2:n.1394-144_1394-139del