Canonical Allele Identifier: CA1219585079

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077724_201077727delinsAAGG , CM000663.2:g.201077724_201077727delinsAAGG	GRCh38
NC_000001.10:g.201046852_201046855delinsAAGG , CM000663.1:g.201046852_201046855delinsAAGG	GRCh37
NC_000001.9:g.199313475_199313478delinsAAGG	NCBI36
NG_009816.1:g.39840_39843delinsCCTT
NG_009816.2:g.39840_39843delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1619+152_1619+155delinsCCTT MANE Select	ENSP00000355192.3:n.1619+152_1619+155delinsCCTT
ENST00000679417.1:c.*782+152_*782+155delinsCCTT	ENSP00000506706.1:n.*782+152_*782+155delinsCCTT
ENST00000680059.1:c.1619+152_1619+155delinsCCTT	ENSP00000504944.1:n.1619+152_1619+155delinsCCTT
ENST00000681078.1:c.1619+152_1619+155delinsCCTT	ENSP00000506645.1:n.1619+152_1619+155delinsCCTT
ENST00000681190.1:c.1619+152_1619+155delinsCCTT	ENSP00000506428.1:n.1619+152_1619+155delinsCCTT
ENST00000681874.1:c.1619+152_1619+155delinsCCTT	ENSP00000505162.1:n.1619+152_1619+155delinsCCTT
ENST00000362061.3:c.1619+152_1619+155delinsCCTT	ENSP00000355192.3:n.1619+152_1619+155delinsCCTT
ENST00000367338.7:c.1619+152_1619+155delinsCCTT	ENSP00000356307.3:n.1619+152_1619+155delinsCCTT
NM_000069.2:c.1619+152_1619+155delinsCCTT	NP_000060.2:n.1619+152_1619+155delinsCCTT
XM_005245478.2:c.1619+152_1619+155delinsCCTT	XP_005245535.1:n.1619+152_1619+155delinsCCTT
XM_005245478.3:c.1619+152_1619+155delinsCCTT	XP_005245535.1:n.1619+152_1619+155delinsCCTT
NM_000069.3:c.1619+152_1619+155delinsCCTT MANE Select	NP_000060.2:n.1619+152_1619+155delinsCCTT