Canonical Allele Identifier: CA1011169649

Gene: CACNA1S

Linked Data

• gnomAD v3: 1-201077818-A-ATCTCGGTGGTCG
• gnomAD v4: 1-201077818-A-ATCTCGGTGGTCG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077818_201077819insTCTCGGTGGTCG , CM000663.2:g.201077818_201077819insTCTCGGTGGTCG	GRCh38
NC_000001.10:g.201046946_201046947insTCTCGGTGGTCG , CM000663.1:g.201046946_201046947insTCTCGGTGGTCG	GRCh37
NC_000001.9:g.199313569_199313570insTCTCGGTGGTCG	NCBI36
NG_009816.1:g.39748_39749insCGACCACCGAGA
NG_009816.2:g.39748_39749insCGACCACCGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1619+60_1619+61insCGACCACCGAGA MANE Select	ENSP00000355192.3:n.1619+60_1619+61insCGACCACCGAGA
ENST00000679417.1:c.*782+60_*782+61insCGACCACCGAGA	ENSP00000506706.1:n.*782+60_*782+61insCGACCACCGAGA
ENST00000680059.1:c.1619+60_1619+61insCGACCACCGAGA	ENSP00000504944.1:n.1619+60_1619+61insCGACCACCGAGA
ENST00000681078.1:c.1619+60_1619+61insCGACCACCGAGA	ENSP00000506645.1:n.1619+60_1619+61insCGACCACCGAGA
ENST00000681190.1:c.1619+60_1619+61insCGACCACCGAGA	ENSP00000506428.1:n.1619+60_1619+61insCGACCACCGAGA
ENST00000681874.1:c.1619+60_1619+61insCGACCACCGAGA	ENSP00000505162.1:n.1619+60_1619+61insCGACCACCGAGA
ENST00000362061.3:c.1619+60_1619+61insCGACCACCGAGA	ENSP00000355192.3:n.1619+60_1619+61insCGACCACCGAGA
ENST00000367338.7:c.1619+60_1619+61insCGACCACCGAGA	ENSP00000356307.3:n.1619+60_1619+61insCGACCACCGAGA
NM_000069.2:c.1619+60_1619+61insCGACCACCGAGA	NP_000060.2:n.1619+60_1619+61insCGACCACCGAGA
XM_005245478.2:c.1619+60_1619+61insCGACCACCGAGA	XP_005245535.1:n.1619+60_1619+61insCGACCACCGAGA
XM_005245478.3:c.1619+60_1619+61insCGACCACCGAGA	XP_005245535.1:n.1619+60_1619+61insCGACCACCGAGA
NM_000069.3:c.1619+60_1619+61insCGACCACCGAGA MANE Select	NP_000060.2:n.1619+60_1619+61insCGACCACCGAGA