Canonical Allele Identifier: CA2649765930

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201075443-T-TGCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075443_201075444insGCCCCC , CM000663.2:g.201075443_201075444insGCCCCC	GRCh38
NC_000001.10:g.201044571_201044572insGCCCCC , CM000663.1:g.201044571_201044572insGCCCCC	GRCh37
NC_000001.9:g.199311194_199311195insGCCCCC	NCBI36
NG_009816.1:g.42123_42124insGGGGGC
NG_009816.2:g.42123_42124insGGGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1948+51_1948+52insGGGGGC MANE Select	ENSP00000355192.3:n.1948+51_1948+52insGGGGGC
ENST00000679417.1:c.*1111+51_*1111+52insGGGGGC	ENSP00000506706.1:n.*1111+51_*1111+52insGGGGGC
ENST00000680059.1:c.1948+51_1948+52insGGGGGC	ENSP00000504944.1:n.1948+51_1948+52insGGGGGC
ENST00000681078.1:c.1948+51_1948+52insGGGGGC	ENSP00000506645.1:n.1948+51_1948+52insGGGGGC
ENST00000681190.1:c.1948+51_1948+52insGGGGGC	ENSP00000506428.1:n.1948+51_1948+52insGGGGGC
ENST00000681874.1:c.1948+51_1948+52insGGGGGC	ENSP00000505162.1:n.1948+51_1948+52insGGGGGC
ENST00000362061.3:c.1948+51_1948+52insGGGGGC	ENSP00000355192.3:n.1948+51_1948+52insGGGGGC
ENST00000367338.7:c.1948+51_1948+52insGGGGGC	ENSP00000356307.3:n.1948+51_1948+52insGGGGGC
NM_000069.2:c.1948+51_1948+52insGGGGGC	NP_000060.2:n.1948+51_1948+52insGGGGGC
XM_005245478.2:c.1948+51_1948+52insGGGGGC	XP_005245535.1:n.1948+51_1948+52insGGGGGC
XM_005245478.3:c.1948+51_1948+52insGGGGGC	XP_005245535.1:n.1948+51_1948+52insGGGGGC
NM_000069.3:c.1948+51_1948+52insGGGGGC MANE Select	NP_000060.2:n.1948+51_1948+52insGGGGGC