Canonical Allele Identifier: CA1011174673

Gene: CACNA1S

Linked Data

• dbSNP Id: rs1660923552
• gnomAD v3: 1-201058401-TACTC-T
• gnomAD v4: 1-201058401-TACTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201058404_201058407del , CM000663.2:g.201058404_201058407del	GRCh38
NC_000001.10:g.201027532_201027535del , CM000663.1:g.201027532_201027535del	GRCh37
NC_000001.9:g.199294155_199294158del	NCBI36
NG_009816.1:g.59162_59165del
NG_009816.2:g.59162_59165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.3609+3_3609+6del MANE Select	ENSP00000355192.3:n.3609+3_3609+6del
ENST00000679417.1:c.*2772+3_*2772+6del	ENSP00000506706.1:n.*2772+3_*2772+6del
ENST00000680051.1:n.735+3_735+6del
ENST00000680059.1:c.*1127+3_*1127+6del	ENSP00000504944.1:n.*1127+3_*1127+6del
ENST00000681078.1:c.3609+3_3609+6del	ENSP00000506645.1:n.3609+3_3609+6del
ENST00000681190.1:c.3609+3_3609+6del	ENSP00000506428.1:n.3609+3_3609+6del
ENST00000681874.1:c.3549+3_3549+6del	ENSP00000505162.1:n.3549+3_3549+6del
ENST00000362061.3:c.3609+3_3609+6del	ENSP00000355192.3:n.3609+3_3609+6del
ENST00000367338.7:c.3609+3_3609+6del	ENSP00000356307.3:n.3609+3_3609+6del
NM_000069.2:c.3609+3_3609+6del	NP_000060.2:n.3609+3_3609+6del
XM_005245478.2:c.3609+3_3609+6del	XP_005245535.1:n.3609+3_3609+6del
XM_005245478.3:c.3609+3_3609+6del	XP_005245535.1:n.3609+3_3609+6del
NM_000069.3:c.3609+3_3609+6del MANE Select	NP_000060.2:n.3609+3_3609+6del