Canonical Allele Identifier: CA1011169654

Gene: CACNA1S

Linked Data

• gnomAD v3: 1-201077820-CAGACCAG-C
• gnomAD v4: 1-201077820-CAGACCAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077821_201077827del , CM000663.2:g.201077821_201077827del	GRCh38
NC_000001.10:g.201046949_201046955del , CM000663.1:g.201046949_201046955del	GRCh37
NC_000001.9:g.199313572_199313578del	NCBI36
NG_009816.1:g.39740_39746del
NG_009816.2:g.39740_39746del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1619+52_1619+58del MANE Select	ENSP00000355192.3:n.1619+52_1619+58del
ENST00000679417.1:c.*782+52_*782+58del	ENSP00000506706.1:n.*782+52_*782+58del
ENST00000680059.1:c.1619+52_1619+58del	ENSP00000504944.1:n.1619+52_1619+58del
ENST00000681078.1:c.1619+52_1619+58del	ENSP00000506645.1:n.1619+52_1619+58del
ENST00000681190.1:c.1619+52_1619+58del	ENSP00000506428.1:n.1619+52_1619+58del
ENST00000681874.1:c.1619+52_1619+58del	ENSP00000505162.1:n.1619+52_1619+58del
ENST00000362061.3:c.1619+52_1619+58del	ENSP00000355192.3:n.1619+52_1619+58del
ENST00000367338.7:c.1619+52_1619+58del	ENSP00000356307.3:n.1619+52_1619+58del
NM_000069.2:c.1619+52_1619+58del	NP_000060.2:n.1619+52_1619+58del
XM_005245478.2:c.1619+52_1619+58del	XP_005245535.1:n.1619+52_1619+58del
XM_005245478.3:c.1619+52_1619+58del	XP_005245535.1:n.1619+52_1619+58del
NM_000069.3:c.1619+52_1619+58del MANE Select	NP_000060.2:n.1619+52_1619+58del