Canonical Allele Identifier: CA2649760929

Gene: CACNA1S

Linked Data

• gnomAD v4: 1-201060506-GTTCACTTCTGTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201060510_201060521del , CM000663.2:g.201060510_201060521del	GRCh38
NC_000001.10:g.201029638_201029649del , CM000663.1:g.201029638_201029649del	GRCh37
NC_000001.9:g.199296261_199296272del	NCBI36
NG_009816.1:g.57049_57060del
NG_009816.2:g.57049_57060del

Transcript Alleles

HGVS	Amino-acid change
ENST00000362061.4:c.3414+140_3414+151del MANE Select	ENSP00000355192.3:n.3414+140_3414+151del
ENST00000679417.1:c.*2577+140_*2577+151del	ENSP00000506706.1:n.*2577+140_*2577+151de...
ENST00000680051.1:n.540+140_540+151del
ENST00000680059.1:c.*932+140_*932+151del	ENSP00000504944.1:n.*932+140_*932+151del
ENST00000681078.1:c.3414+140_3414+151del	ENSP00000506645.1:n.3414+140_3414+151del
ENST00000681190.1:c.3414+140_3414+151del	ENSP00000506428.1:n.3414+140_3414+151del
ENST00000681874.1:c.3354+140_3354+151del	ENSP00000505162.1:n.3354+140_3354+151del
ENST00000362061.3:c.3414+140_3414+151del	ENSP00000355192.3:n.3414+140_3414+151del
ENST00000367338.7:c.3414+140_3414+151del	ENSP00000356307.3:n.3414+140_3414+151del
NM_000069.2:c.3414+140_3414+151del	NP_000060.2:n.3414+140_3414+151del
XM_005245478.2:c.3414+140_3414+151del	XP_005245535.1:n.3414+140_3414+151del
XM_005245478.3:c.3414+140_3414+151del	XP_005245535.1:n.3414+140_3414+151del
NM_000069.3:c.3414+140_3414+151del MANE Select	NP_000060.2:n.3414+140_3414+151del