Canonical Allele Identifier: CA2649765968

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201075449-A-AACCCTTTTTTTCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075449_201075450insACCCTTTTTTTCCC , CM000663.2:g.201075449_201075450insACCCTTTTTTTCCC	GRCh38
NC_000001.10:g.201044577_201044578insACCCTTTTTTTCCC , CM000663.1:g.201044577_201044578insACCCTTTTTTTCCC	GRCh37
NC_000001.9:g.199311200_199311201insACCCTTTTTTTCCC	NCBI36
NG_009816.1:g.42117_42118insGGGAAAAAAAGGGT
NG_009816.2:g.42117_42118insGGGAAAAAAAGGGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1948+45_1948+46insGGGAAAAAAAGGGT MANE Select	ENSP00000355192.3:n.1948+45_1948+46insGGGAAAAAAAGGGT
ENST00000679417.1:c.*1111+45_*1111+46insGGGAAAAAAAGGGT	ENSP00000506706.1:n.*1111+45_*1111+46insGGGAAAAAAAGGGT
ENST00000680059.1:c.1948+45_1948+46insGGGAAAAAAAGGGT	ENSP00000504944.1:n.1948+45_1948+46insGGGAAAAAAAGGGT
ENST00000681078.1:c.1948+45_1948+46insGGGAAAAAAAGGGT	ENSP00000506645.1:n.1948+45_1948+46insGGGAAAAAAAGGGT
ENST00000681190.1:c.1948+45_1948+46insGGGAAAAAAAGGGT	ENSP00000506428.1:n.1948+45_1948+46insGGGAAAAAAAGGGT
ENST00000681874.1:c.1948+45_1948+46insGGGAAAAAAAGGGT	ENSP00000505162.1:n.1948+45_1948+46insGGGAAAAAAAGGGT
ENST00000362061.3:c.1948+45_1948+46insGGGAAAAAAAGGGT	ENSP00000355192.3:n.1948+45_1948+46insGGGAAAAAAAGGGT
ENST00000367338.7:c.1948+45_1948+46insGGGAAAAAAAGGGT	ENSP00000356307.3:n.1948+45_1948+46insGGGAAAAAAAGGGT
NM_000069.2:c.1948+45_1948+46insGGGAAAAAAAGGGT	NP_000060.2:n.1948+45_1948+46insGGGAAAAAAAGGGT
XM_005245478.2:c.1948+45_1948+46insGGGAAAAAAAGGGT	XP_005245535.1:n.1948+45_1948+46insGGGAAAAAAAGGGT
XM_005245478.3:c.1948+45_1948+46insGGGAAAAAAAGGGT	XP_005245535.1:n.1948+45_1948+46insGGGAAAAAAAGGGT
NM_000069.3:c.1948+45_1948+46insGGGAAAAAAAGGGT MANE Select	NP_000060.2:n.1948+45_1948+46insGGGAAAAAAAGGGT