Canonical Allele Identifier: CA1011168666

Gene: CACNA1S

Linked Data

• gnomAD v3: 1-201075443-T-TCCCCCC
• gnomAD v4: 1-201075443-T-TCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075448_201075449insCCCCCC , CM000663.2:g.201075448_201075449insCCCCCC	GRCh38
NC_000001.10:g.201044576_201044577insCCCCCC , CM000663.1:g.201044576_201044577insCCCCCC	GRCh37
NC_000001.9:g.199311199_199311200insCCCCCC	NCBI36
NG_009816.1:g.42123_42124insGGGGGG
NG_009816.2:g.42123_42124insGGGGGG

Transcript Alleles

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