Canonical Allele Identifier: CA730075680

Gene: CACNA1S

Linked Data

• dbSNP Id: rs1217106313
• gnomAD v4: 1-201078148-TCTC-T
• MyVariant Identifiers: chr1:g.201047277_201047279del (hg19) ; chr1:g.201078149_201078151del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201078151_201078153del , CM000663.2:g.201078151_201078153del	GRCh38
NC_000001.10:g.201047279_201047281del , CM000663.1:g.201047279_201047281del	GRCh37
NC_000001.9:g.199313902_199313904del	NCBI36
NG_009816.1:g.39416_39418del
NG_009816.2:g.39416_39418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1394-47_1394-45del MANE Select	ENSP00000355192.3:n.1394-47_1394-45del
ENST00000679417.1:c.*557-47_*557-45del	ENSP00000506706.1:n.*557-47_*557-45del
ENST00000680059.1:c.1394-47_1394-45del	ENSP00000504944.1:n.1394-47_1394-45del
ENST00000681078.1:c.1394-47_1394-45del	ENSP00000506645.1:n.1394-47_1394-45del
ENST00000681190.1:c.1394-47_1394-45del	ENSP00000506428.1:n.1394-47_1394-45del
ENST00000681874.1:c.1394-47_1394-45del	ENSP00000505162.1:n.1394-47_1394-45del
ENST00000362061.3:c.1394-47_1394-45del	ENSP00000355192.3:n.1394-47_1394-45del
ENST00000367338.7:c.1394-47_1394-45del	ENSP00000356307.3:n.1394-47_1394-45del
NM_000069.2:c.1394-47_1394-45del	NP_000060.2:n.1394-47_1394-45del
XM_005245478.2:c.1394-47_1394-45del	XP_005245535.1:n.1394-47_1394-45del
XM_005245478.3:c.1394-47_1394-45del	XP_005245535.1:n.1394-47_1394-45del
NM_000069.3:c.1394-47_1394-45del MANE Select	NP_000060.2:n.1394-47_1394-45del