Canonical Allele Identifier: CA1219577614

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201058401_201058405delinsTACTC , CM000663.2:g.201058401_201058405delinsTACTC	GRCh38
NC_000001.10:g.201027529_201027533delinsTACTC , CM000663.1:g.201027529_201027533delinsTACTC	GRCh37
NC_000001.9:g.199294152_199294156delinsTACTC	NCBI36
NG_009816.1:g.59162_59166delinsGAGTA
NG_009816.2:g.59162_59166delinsGAGTA

Transcript Alleles

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