Canonical Allele Identifier: CA2573146122
Gene: CSRP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1470431
ClinVar RCV Id: RCV001964172
dbSNP Id: rs2133511280

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.19188252del , CM000673.2:g.19188252del GRCh38
NC_000011.9:g.19209799del , CM000673.1:g.19209799del GRCh37
NC_000011.8:g.19166375del NCBI36
NG_011932.2:g.27322del , LRG_440:g.27322del

Transcript Alleles

HGVS Amino-acid Change
ENST00000265968.9:c.165del MANE Select ENSP00000265968.3:p.Ile56SerfsTer?
ENST00000533783.2:c.165del ENSP00000431813.1:p.Ile56SerfsTer?
ENST00000647990.1:c.165del ENSP00000496798.1:p.Ile56SerfsTer?
ENST00000648719.1:c.113-3207del ENSP00000497633.1:n.113-3207del
ENST00000649235.1:c.165del ENSP00000497388.1:p.Ile56SerfsTer?
ENST00000649842.1:c.113-1904del ENSP00000497531.1:n.113-1904del
ENST00000265968.7:c.165del ENSP00000265968.3:p.Ile56SerfsTer?
ENST00000533783.1:c.165del ENSP00000431813.1:p.Ile56SerfsTer?
NM_003476.4:c.165del NP_003467.1:p.Ile56SerfsTer?
XM_024448698.1:c.113-1904del XP_024304466.1:n.113-1904del
NM_001369404.1:c.113-1904del NP_001356333.1:n.113-1904del
NM_003476.5:c.165del MANE Select NP_003467.1:p.Ile56SerfsTer?