Canonical Allele Identifier: CA1011174607

Gene: CACNA1S

Linked Data

• dbSNP Id: rs1660916979
• gnomAD v3: 1-201058224-TGA-T
• gnomAD v4: 1-201058224-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201058226_201058227del , CM000663.2:g.201058226_201058227del	GRCh38
NC_000001.10:g.201027354_201027355del , CM000663.1:g.201027354_201027355del	GRCh37
NC_000001.9:g.199293977_199293978del	NCBI36
NG_009816.1:g.59341_59342del
NG_009816.2:g.59341_59342del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3609+182_3609+183del MANE Select	ENSP00000355192.3:n.3609+182_3609+183del
ENST00000679417.1:c.*2772+182_*2772+183del	ENSP00000506706.1:n.*2772+182_*2772+183del
ENST00000680051.1:n.735+182_735+183del
ENST00000680059.1:c.*1127+182_*1127+183del	ENSP00000504944.1:n.*1127+182_*1127+183del
ENST00000681078.1:c.3609+182_3609+183del	ENSP00000506645.1:n.3609+182_3609+183del
ENST00000681190.1:c.3609+182_3609+183del	ENSP00000506428.1:n.3609+182_3609+183del
ENST00000681874.1:c.3549+182_3549+183del	ENSP00000505162.1:n.3549+182_3549+183del
ENST00000362061.3:c.3609+182_3609+183del	ENSP00000355192.3:n.3609+182_3609+183del
ENST00000367338.7:c.3609+182_3609+183del	ENSP00000356307.3:n.3609+182_3609+183del
NM_000069.2:c.3609+182_3609+183del	NP_000060.2:n.3609+182_3609+183del
XM_005245478.2:c.3609+182_3609+183del	XP_005245535.1:n.3609+182_3609+183del
XM_005245478.3:c.3609+182_3609+183del	XP_005245535.1:n.3609+182_3609+183del
NM_000069.3:c.3609+182_3609+183del MANE Select	NP_000060.2:n.3609+182_3609+183del