Canonical Allele Identifier: CA213603
Gene: CASR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 35801
ClinVar RCV Id: RCV000029453
dbSNP Id: rs193922442

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122261589del , CM000665.2:g.122261589del GRCh38
NC_000003.11:g.121980436del , CM000665.1:g.121980436del GRCh37
NC_000003.10:g.123463126del NCBI36
NG_009058.1:g.82907del

Transcript Alleles

HGVS Amino-acid change
NM_000388.3:c.554del VV NP_000379.2:p.Arg185GlnfsTer?
NM_001178065.1:c.554del VV NP_001171536.1:p.Arg185GlnfsTer?
XM_005247836.2:c.554del XP_005247893.1:p.Arg185GlnfsTer?
XM_005247837.2:c.71del XP_005247894.1:p.Arg24GlnfsTer?
XM_006713789.2:c.554del XP_006713852.1:p.Arg185GlnfsTer?
XM_011513237.1:c.554del XP_011511539.1:p.Arg185GlnfsTer?
XM_011513238.1:c.554del XP_011511540.1:p.Arg185GlnfsTer?
XM_011513239.1:c.-35del XP_011511541.1:p.=
XM_006713789.3:c.554del XP_006713852.1:p.Arg185GlnfsTer?
XM_017007324.1:c.554del XP_016862813.1:p.Arg185GlnfsTer?
XM_017007325.1:c.554del XP_016862814.1:p.Arg185GlnfsTer?
ENST00000490131.5:c.554del ENSP00000418685.1:p.Arg185GlnfsTer?
ENST00000498619.2:c.554del ENSP00000420194.1:p.Arg185GlnfsTer?