Canonical Allele Identifier: CA1011169678

Gene: CACNA1S

Linked Data

• gnomAD v3: 1-201077835-T-TC
• gnomAD v4: 1-201077835-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201077835_201077836insC , CM000663.2:g.201077835_201077836insC	GRCh38
NC_000001.10:g.201046963_201046964insC , CM000663.1:g.201046963_201046964insC	GRCh37
NC_000001.9:g.199313586_199313587insC	NCBI36
NG_009816.1:g.39731_39732insG
NG_009816.2:g.39731_39732insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1619+43_1619+44insG MANE Select	ENSP00000355192.3:n.1619+43_1619+44insG
ENST00000679417.1:c.*782+43_*782+44insG	ENSP00000506706.1:n.*782+43_*782+44insG
ENST00000680059.1:c.1619+43_1619+44insG	ENSP00000504944.1:n.1619+43_1619+44insG
ENST00000681078.1:c.1619+43_1619+44insG	ENSP00000506645.1:n.1619+43_1619+44insG
ENST00000681190.1:c.1619+43_1619+44insG	ENSP00000506428.1:n.1619+43_1619+44insG
ENST00000681874.1:c.1619+43_1619+44insG	ENSP00000505162.1:n.1619+43_1619+44insG
ENST00000362061.3:c.1619+43_1619+44insG	ENSP00000355192.3:n.1619+43_1619+44insG
ENST00000367338.7:c.1619+43_1619+44insG	ENSP00000356307.3:n.1619+43_1619+44insG
NM_000069.2:c.1619+43_1619+44insG	NP_000060.2:n.1619+43_1619+44insG
XM_005245478.2:c.1619+43_1619+44insG	XP_005245535.1:n.1619+43_1619+44insG
XM_005245478.3:c.1619+43_1619+44insG	XP_005245535.1:n.1619+43_1619+44insG
NM_000069.3:c.1619+43_1619+44insG MANE Select	NP_000060.2:n.1619+43_1619+44insG