Canonical Allele Identifier: CA1219584711

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201076831_201076834delinsGAGA , CM000663.2:g.201076831_201076834delinsGAGA	GRCh38
NC_000001.10:g.201045959_201045962delinsGAGA , CM000663.1:g.201045959_201045962delinsGAGA	GRCh37
NC_000001.9:g.199312582_199312585delinsGAGA	NCBI36
NG_009816.1:g.40733_40736delinsTCTC
NG_009816.2:g.40733_40736delinsTCTC

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.1827+86_1827+89delinsTCTC MANE Select	ENSP00000355192.3:n.1827+86_1827+89delins...
ENST00000679417.1:c.*990+86_*990+89delinsTCTC	ENSP00000506706.1:n.*990+86_*990+89delins...
ENST00000680059.1:c.1827+86_1827+89delinsTCTC	ENSP00000504944.1:n.1827+86_1827+89delins...
ENST00000681078.1:c.1827+86_1827+89delinsTCTC	ENSP00000506645.1:n.1827+86_1827+89delins...
ENST00000681190.1:c.1827+86_1827+89delinsTCTC	ENSP00000506428.1:n.1827+86_1827+89delins...
ENST00000681874.1:c.1827+86_1827+89delinsTCTC	ENSP00000505162.1:n.1827+86_1827+89delins...
ENST00000362061.3:c.1827+86_1827+89delinsTCTC	ENSP00000355192.3:n.1827+86_1827+89delins...
ENST00000367338.7:c.1827+86_1827+89delinsTCTC	ENSP00000356307.3:n.1827+86_1827+89delins...
NM_000069.2:c.1827+86_1827+89delinsTCTC	NP_000060.2:n.1827+86_1827+89delinsTCTC
XM_005245478.2:c.1827+86_1827+89delinsTCTC	XP_005245535.1:n.1827+86_1827+89delinsTCT...
XM_005245478.3:c.1827+86_1827+89delinsTCTC	XP_005245535.1:n.1827+86_1827+89delinsTCT...
NM_000069.3:c.1827+86_1827+89delinsTCTC MANE Select	NP_000060.2:n.1827+86_1827+89delinsTCTC