Canonical Allele Identifier: CA2649765984

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201075454-C-CCCCCCAAACTCTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075454_201075455insCCCCCAAACTCTTT , CM000663.2:g.201075454_201075455insCCCCCAAACTCTTT	GRCh38
NC_000001.10:g.201044582_201044583insCCCCCAAACTCTTT , CM000663.1:g.201044582_201044583insCCCCCAAACTCTTT	GRCh37
NC_000001.9:g.199311205_199311206insCCCCCAAACTCTTT	NCBI36
NG_009816.1:g.42112_42113insAAAGAGTTTGGGGG
NG_009816.2:g.42112_42113insAAAGAGTTTGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1948+40_1948+41insAAAGAGTTTGGGGG MANE Select	ENSP00000355192.3:n.1948+40_1948+41insAAAGAGTTTGGGGG
ENST00000679417.1:c.*1111+40_*1111+41insAAAGAGTTTGGGGG	ENSP00000506706.1:n.*1111+40_*1111+41insAAAGAGTTTGGGGG
ENST00000680059.1:c.1948+40_1948+41insAAAGAGTTTGGGGG	ENSP00000504944.1:n.1948+40_1948+41insAAAGAGTTTGGGGG
ENST00000681078.1:c.1948+40_1948+41insAAAGAGTTTGGGGG	ENSP00000506645.1:n.1948+40_1948+41insAAAGAGTTTGGGGG
ENST00000681190.1:c.1948+40_1948+41insAAAGAGTTTGGGGG	ENSP00000506428.1:n.1948+40_1948+41insAAAGAGTTTGGGGG
ENST00000681874.1:c.1948+40_1948+41insAAAGAGTTTGGGGG	ENSP00000505162.1:n.1948+40_1948+41insAAAGAGTTTGGGGG
ENST00000362061.3:c.1948+40_1948+41insAAAGAGTTTGGGGG	ENSP00000355192.3:n.1948+40_1948+41insAAAGAGTTTGGGGG
ENST00000367338.7:c.1948+40_1948+41insAAAGAGTTTGGGGG	ENSP00000356307.3:n.1948+40_1948+41insAAAGAGTTTGGGGG
NM_000069.2:c.1948+40_1948+41insAAAGAGTTTGGGGG	NP_000060.2:n.1948+40_1948+41insAAAGAGTTTGGGGG
XM_005245478.2:c.1948+40_1948+41insAAAGAGTTTGGGGG	XP_005245535.1:n.1948+40_1948+41insAAAGAGTTTGGGGG
XM_005245478.3:c.1948+40_1948+41insAAAGAGTTTGGGGG	XP_005245535.1:n.1948+40_1948+41insAAAGAGTTTGGGGG
NM_000069.3:c.1948+40_1948+41insAAAGAGTTTGGGGG MANE Select	NP_000060.2:n.1948+40_1948+41insAAAGAGTTTGGGGG