Canonical Allele Identifier: CA1219574299

Gene: CACNA1S

Linked Data

• dbSNP Id: rs1661572806
• gnomAD v4: 1-201075398-G-GGACACCCTTGACCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201075399_201075400insACACCCTTGACCCCAG , CM000663.2:g.201075399_201075400insACACCCTTGACCCCAG	GRCh38
NC_000001.10:g.201044527_201044528insACACCCTTGACCCCAG , CM000663.1:g.201044527_201044528insACACCCTTGACCCCAG	GRCh37
NC_000001.9:g.199311150_199311151insACACCCTTGACCCCAG	NCBI36
NG_009816.1:g.42168_42169insTGGGGTCAAGGGTGTC
NG_009816.2:g.42168_42169insTGGGGTCAAGGGTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.1948+96_1948+97insTGGGGTCAAGGGTGTC MANE Select	ENSP00000355192.3:n.1948+96_1948+97insTGGGGTCAAGGGTGTC
ENST00000679417.1:c.*1111+96_*1111+97insTGGGGTCAAGGGTGTC	ENSP00000506706.1:n.*1111+96_*1111+97insTGGGGTCAAGGGTGTC
ENST00000680059.1:c.1948+96_1948+97insTGGGGTCAAGGGTGTC	ENSP00000504944.1:n.1948+96_1948+97insTGGGGTCAAGGGTGTC
ENST00000681078.1:c.1948+96_1948+97insTGGGGTCAAGGGTGTC	ENSP00000506645.1:n.1948+96_1948+97insTGGGGTCAAGGGTGTC
ENST00000681190.1:c.1948+96_1948+97insTGGGGTCAAGGGTGTC	ENSP00000506428.1:n.1948+96_1948+97insTGGGGTCAAGGGTGTC
ENST00000681874.1:c.1948+96_1948+97insTGGGGTCAAGGGTGTC	ENSP00000505162.1:n.1948+96_1948+97insTGGGGTCAAGGGTGTC
ENST00000362061.3:c.1948+96_1948+97insTGGGGTCAAGGGTGTC	ENSP00000355192.3:n.1948+96_1948+97insTGGGGTCAAGGGTGTC
ENST00000367338.7:c.1948+96_1948+97insTGGGGTCAAGGGTGTC	ENSP00000356307.3:n.1948+96_1948+97insTGGGGTCAAGGGTGTC
NM_000069.2:c.1948+96_1948+97insTGGGGTCAAGGGTGTC	NP_000060.2:n.1948+96_1948+97insTGGGGTCAAGGGTGTC
XM_005245478.2:c.1948+96_1948+97insTGGGGTCAAGGGTGTC	XP_005245535.1:n.1948+96_1948+97insTGGGGTCAAGGGTGTC
XM_005245478.3:c.1948+96_1948+97insTGGGGTCAAGGGTGTC	XP_005245535.1:n.1948+96_1948+97insTGGGGTCAAGGGTGTC
NM_000069.3:c.1948+96_1948+97insTGGGGTCAAGGGTGTC MANE Select	NP_000060.2:n.1948+96_1948+97insTGGGGTCAAGGGTGTC