Canonical Allele Identifier: CA2740215432

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075559_201075562del , CM000663.2:g.201075559_201075562del	GRCh38
NC_000001.10:g.201044687_201044690del , CM000663.1:g.201044687_201044690del	GRCh37
NC_000001.9:g.199311310_199311313del	NCBI36
NG_009816.1:g.42005_42008del
NG_009816.2:g.42005_42008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1881_1884del MANE Select	ENSP00000355192.3:p.Tyr627Ter
ENST00000679417.1:c.*1044_*1047del	ENSP00000506706.1:n.*1044_*1047del
ENST00000680059.1:c.1881_1884del	ENSP00000504944.1:p.Tyr627Ter
ENST00000681078.1:c.1881_1884del	ENSP00000506645.1:p.Tyr627Ter
ENST00000681190.1:c.1881_1884del	ENSP00000506428.1:p.Tyr627Ter
ENST00000681874.1:c.1881_1884del	ENSP00000505162.1:p.Tyr627Ter
ENST00000362061.3:c.1881_1884del	ENSP00000355192.3:p.Tyr627Ter
ENST00000367338.7:c.1881_1884del	ENSP00000356307.3:p.Tyr627Ter
NM_000069.2:c.1881_1884del	NP_000060.2:p.Tyr627Ter
XM_005245478.2:c.1881_1884del	XP_005245535.1:p.Tyr627Ter
XM_005245478.3:c.1881_1884del	XP_005245535.1:p.Tyr627Ter
NM_000069.3:c.1881_1884del MANE Select	NP_000060.2:p.Tyr627Ter