Canonical Allele Identifier: CA2649760951

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201060535-A-AGTGGGCGGGCCTTCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201060536_201060537insTGGGCGGGCCTTCAGGG , CM000663.2:g.201060536_201060537insTGGGCGGGCCTTCAGGG	GRCh38
NC_000001.10:g.201029664_201029665insTGGGCGGGCCTTCAGGG , CM000663.1:g.201029664_201029665insTGGGCGGGCCTTCAGGG	GRCh37
NC_000001.9:g.199296287_199296288insTGGGCGGGCCTTCAGGG	NCBI36
NG_009816.1:g.57031_57032insCCTGAAGGCCCGCCCAC
NG_009816.2:g.57031_57032insCCTGAAGGCCCGCCCAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.3414+122_3414+123insCCTGAAGGCCCGCCCAC MANE Select	ENSP00000355192.3:n.3414+122_3414+123insC...
ENST00000679417.1:c.*2577+122_*2577+123insCCTGAAGGCCCGCCCAC	ENSP00000506706.1:n.*2577+122_*2577+123in...
ENST00000680051.1:n.540+122_540+123insCCTGAAGGCCCGCCCAC
ENST00000680059.1:c.*932+122_*932+123insCCTGAAGGCCCGCCCAC	ENSP00000504944.1:n.*932+122_*932+123insC...
ENST00000681078.1:c.3414+122_3414+123insCCTGAAGGCCCGCCCAC	ENSP00000506645.1:n.3414+122_3414+123insC...
ENST00000681190.1:c.3414+122_3414+123insCCTGAAGGCCCGCCCAC	ENSP00000506428.1:n.3414+122_3414+123insC...
ENST00000681874.1:c.3354+122_3354+123insCCTGAAGGCCCGCCCAC	ENSP00000505162.1:n.3354+122_3354+123insC...
ENST00000362061.3:c.3414+122_3414+123insCCTGAAGGCCCGCCCAC	ENSP00000355192.3:n.3414+122_3414+123insC...
ENST00000367338.7:c.3414+122_3414+123insCCTGAAGGCCCGCCCAC	ENSP00000356307.3:n.3414+122_3414+123insC...
NM_000069.2:c.3414+122_3414+123insCCTGAAGGCCCGCCCAC	NP_000060.2:n.3414+122_3414+123insCCTGAAG...
XM_005245478.2:c.3414+122_3414+123insCCTGAAGGCCCGCCCAC	XP_005245535.1:n.3414+122_3414+123insCCTG...
XM_005245478.3:c.3414+122_3414+123insCCTGAAGGCCCGCCCAC	XP_005245535.1:n.3414+122_3414+123insCCTG...
NM_000069.3:c.3414+122_3414+123insCCTGAAGGCCCGCCCAC MANE Select	NP_000060.2:n.3414+122_3414+123insCCTGAAG...