Canonical Allele Identifier: CA2649766647

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201077268-T-TTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077270_201077272dup , CM000663.2:g.201077270_201077272dup	GRCh38
NC_000001.10:g.201046398_201046400dup , CM000663.1:g.201046398_201046400dup	GRCh37
NC_000001.9:g.199313021_199313023dup	NCBI36
NG_009816.1:g.40296_40298dup
NG_009816.2:g.40296_40298dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1620-144_1620-142dup MANE Select	ENSP00000355192.3:n.1620-144_1620-142dup
ENST00000679417.1:c.*783-144_*783-142dup	ENSP00000506706.1:n.*783-144_*783-142dup
ENST00000680059.1:c.1620-144_1620-142dup	ENSP00000504944.1:n.1620-144_1620-142dup
ENST00000681078.1:c.1620-144_1620-142dup	ENSP00000506645.1:n.1620-144_1620-142dup
ENST00000681190.1:c.1620-144_1620-142dup	ENSP00000506428.1:n.1620-144_1620-142dup
ENST00000681874.1:c.1620-144_1620-142dup	ENSP00000505162.1:n.1620-144_1620-142dup
ENST00000362061.3:c.1620-144_1620-142dup	ENSP00000355192.3:n.1620-144_1620-142dup
ENST00000367338.7:c.1620-144_1620-142dup	ENSP00000356307.3:n.1620-144_1620-142dup
NM_000069.2:c.1620-144_1620-142dup	NP_000060.2:n.1620-144_1620-142dup
XM_005245478.2:c.1620-144_1620-142dup	XP_005245535.1:n.1620-144_1620-142dup
XM_005245478.3:c.1620-144_1620-142dup	XP_005245535.1:n.1620-144_1620-142dup
NM_000069.3:c.1620-144_1620-142dup MANE Select	NP_000060.2:n.1620-144_1620-142dup