Canonical Allele Identifier: CA2649766001

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201075458-C-CCCAACCCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075458_201075459insCCAACCCTT , CM000663.2:g.201075458_201075459insCCAACCCTT	GRCh38
NC_000001.10:g.201044586_201044587insCCAACCCTT , CM000663.1:g.201044586_201044587insCCAACCCTT	GRCh37
NC_000001.9:g.199311209_199311210insCCAACCCTT	NCBI36
NG_009816.1:g.42108_42109insAAGGGTTGG
NG_009816.2:g.42108_42109insAAGGGTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1948+36_1948+37insAAGGGTTGG MANE Select	ENSP00000355192.3:n.1948+36_1948+37insAAGGGTTGG
ENST00000679417.1:c.*1111+36_*1111+37insAAGGGTTGG	ENSP00000506706.1:n.*1111+36_*1111+37insAAGGGTTGG
ENST00000680059.1:c.1948+36_1948+37insAAGGGTTGG	ENSP00000504944.1:n.1948+36_1948+37insAAGGGTTGG
ENST00000681078.1:c.1948+36_1948+37insAAGGGTTGG	ENSP00000506645.1:n.1948+36_1948+37insAAGGGTTGG
ENST00000681190.1:c.1948+36_1948+37insAAGGGTTGG	ENSP00000506428.1:n.1948+36_1948+37insAAGGGTTGG
ENST00000681874.1:c.1948+36_1948+37insAAGGGTTGG	ENSP00000505162.1:n.1948+36_1948+37insAAGGGTTGG
ENST00000362061.3:c.1948+36_1948+37insAAGGGTTGG	ENSP00000355192.3:n.1948+36_1948+37insAAGGGTTGG
ENST00000367338.7:c.1948+36_1948+37insAAGGGTTGG	ENSP00000356307.3:n.1948+36_1948+37insAAGGGTTGG
NM_000069.2:c.1948+36_1948+37insAAGGGTTGG	NP_000060.2:n.1948+36_1948+37insAAGGGTTGG
XM_005245478.2:c.1948+36_1948+37insAAGGGTTGG	XP_005245535.1:n.1948+36_1948+37insAAGGGTTGG
XM_005245478.3:c.1948+36_1948+37insAAGGGTTGG	XP_005245535.1:n.1948+36_1948+37insAAGGGTTGG
NM_000069.3:c.1948+36_1948+37insAAGGGTTGG MANE Select	NP_000060.2:n.1948+36_1948+37insAAGGGTTGG