Canonical Allele Identifier: CA2649766597

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201077257-A-AAGTATTTTTTCTTGCTGAGCTATAACAGGAACTCAGT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077259_201077260insTATTTTTTCTTGCTGAGCTATAACAGGAACTCAGTAG , CM000663.2:g.201077259_201077260insTATTTTTTCTTGCTGAGCTATAACAGGAACTCAGTAG	GRCh38
NC_000001.10:g.201046387_201046388insTATTTTTTCTTGCTGAGCTATAACAGGAACTCAGTAG , CM000663.1:g.201046387_201046388insTATTTTTTCTTGCTGAGCTATAACAGGAACTCAGTAG	GRCh37
NC_000001.9:g.199313010_199313011insTATTTTTTCTTGCTGAGCTATAACAGGAACTCAGTAG	NCBI36
NG_009816.1:g.40309_40310insACTGAGTTCCTGTTATAGCTCAGCAAGAAAAAATACT
NG_009816.2:g.40309_40310insACTGAGTTCCTGTTATAGCTCAGCAAGAAAAAATACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGCAAGAAAAAATACT MANE Select	ENSP00000355192.3:n.1620-131_1620-130insACTGAGTTCCTGTTATAGCTC...
ENST00000679417.1:c.*783-131_*783-130insACTGAGTTCCTGTTATAGCTCAGCAAGAAAAAATACT	ENSP00000506706.1:n.*783-131_*783-130insACTGAGTTCCTGTTATAGCTC...
ENST00000680059.1:c.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGCAAGAAAAAATACT	ENSP00000504944.1:n.1620-131_1620-130insACTGAGTTCCTGTTATAGCTC...
ENST00000681078.1:c.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGCAAGAAAAAATACT	ENSP00000506645.1:n.1620-131_1620-130insACTGAGTTCCTGTTATAGCTC...
ENST00000681190.1:c.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGCAAGAAAAAATACT	ENSP00000506428.1:n.1620-131_1620-130insACTGAGTTCCTGTTATAGCTC...
ENST00000681874.1:c.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGCAAGAAAAAATACT	ENSP00000505162.1:n.1620-131_1620-130insACTGAGTTCCTGTTATAGCTC...
ENST00000362061.3:c.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGCAAGAAAAAATACT	ENSP00000355192.3:n.1620-131_1620-130insACTGAGTTCCTGTTATAGCTC...
ENST00000367338.7:c.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGCAAGAAAAAATACT	ENSP00000356307.3:n.1620-131_1620-130insACTGAGTTCCTGTTATAGCTC...
NM_000069.2:c.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGCAAGAAAAAATACT	NP_000060.2:n.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGCAAG...
XM_005245478.2:c.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGCAAGAAAAAATACT	XP_005245535.1:n.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGC...
XM_005245478.3:c.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGCAAGAAAAAATACT	XP_005245535.1:n.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGC...
NM_000069.3:c.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGCAAGAAAAAATACT MANE Select	NP_000060.2:n.1620-131_1620-130insACTGAGTTCCTGTTATAGCTCAGCAAG...