Canonical Allele Identifier: CA2649765978

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201075453-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075453_201075454insA , CM000663.2:g.201075453_201075454insA	GRCh38
NC_000001.10:g.201044581_201044582insA , CM000663.1:g.201044581_201044582insA	GRCh37
NC_000001.9:g.199311204_199311205insA	NCBI36
NG_009816.1:g.42113_42114insT
NG_009816.2:g.42113_42114insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1948+41_1948+42insT MANE Select	ENSP00000355192.3:n.1948+41_1948+42insT
ENST00000679417.1:c.*1111+41_*1111+42insT	ENSP00000506706.1:n.*1111+41_*1111+42insT
ENST00000680059.1:c.1948+41_1948+42insT	ENSP00000504944.1:n.1948+41_1948+42insT
ENST00000681078.1:c.1948+41_1948+42insT	ENSP00000506645.1:n.1948+41_1948+42insT
ENST00000681190.1:c.1948+41_1948+42insT	ENSP00000506428.1:n.1948+41_1948+42insT
ENST00000681874.1:c.1948+41_1948+42insT	ENSP00000505162.1:n.1948+41_1948+42insT
ENST00000362061.3:c.1948+41_1948+42insT	ENSP00000355192.3:n.1948+41_1948+42insT
ENST00000367338.7:c.1948+41_1948+42insT	ENSP00000356307.3:n.1948+41_1948+42insT
NM_000069.2:c.1948+41_1948+42insT	NP_000060.2:n.1948+41_1948+42insT
XM_005245478.2:c.1948+41_1948+42insT	XP_005245535.1:n.1948+41_1948+42insT
XM_005245478.3:c.1948+41_1948+42insT	XP_005245535.1:n.1948+41_1948+42insT
NM_000069.3:c.1948+41_1948+42insT MANE Select	NP_000060.2:n.1948+41_1948+42insT