Canonical Allele Identifier: CA2740215433

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075564_201075566del , CM000663.2:g.201075564_201075566del	GRCh38
NC_000001.10:g.201044692_201044694del , CM000663.1:g.201044692_201044694del	GRCh37
NC_000001.9:g.199311315_199311317del	NCBI36
NG_009816.1:g.42001_42003del
NG_009816.2:g.42001_42003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1877_1879del MANE Select	ENSP00000355192.3:p.Ala626_Tyr627delinsAsp
ENST00000679417.1:c.*1040_*1042del	ENSP00000506706.1:n.*1040_*1042del
ENST00000680059.1:c.1877_1879del	ENSP00000504944.1:p.Ala626_Tyr627delinsAsp
ENST00000681078.1:c.1877_1879del	ENSP00000506645.1:p.Ala626_Tyr627delinsAsp
ENST00000681190.1:c.1877_1879del	ENSP00000506428.1:p.Ala626_Tyr627delinsAsp
ENST00000681874.1:c.1877_1879del	ENSP00000505162.1:p.Ala626_Tyr627delinsAsp
ENST00000362061.3:c.1877_1879del	ENSP00000355192.3:p.Ala626_Tyr627delinsAsp
ENST00000367338.7:c.1877_1879del	ENSP00000356307.3:p.Ala626_Tyr627delinsAsp
NM_000069.2:c.1877_1879del	NP_000060.2:p.Ala626_Tyr627delinsAsp
XM_005245478.2:c.1877_1879del	XP_005245535.1:p.Ala626_Tyr627delinsAsp
XM_005245478.3:c.1877_1879del	XP_005245535.1:p.Ala626_Tyr627delinsAsp
NM_000069.3:c.1877_1879del MANE Select	NP_000060.2:p.Ala626_Tyr627delinsAsp