Canonical Allele Identifier: CA2569606
Gene: CASR HGNC NCBI

Linked Data

dbSNP Id: rs764452647

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122262200del , CM000665.2:g.122262200del GRCh38
NC_000003.11:g.121981047del , CM000665.1:g.121981047del GRCh37
NC_000003.10:g.123463737del NCBI36
NG_009058.1:g.83518del
NG_009058.2:g.83533del

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.1165del ENSP00000418685.2:p.Thr389GlnfsTer21
ENST00000498619.4:c.1165del ENSP00000420194.1:p.Thr389GlnfsTer21
ENST00000638421.1:c.1165del ENSP00000492190.1:p.Thr389GlnfsTer21
ENST00000639785.2:c.1165del MANE Select ENSP00000491584.2:p.Thr389GlnfsTer21
ENST00000490131.5:c.1165del ENSP00000418685.1:p.Thr389GlnfsTer21
ENST00000498619.2:c.1165del ENSP00000420194.1:p.Thr389GlnfsTer21
NM_000388.3:c.1165del NP_000379.2:p.Thr389GlnfsTer21
NM_001178065.1:c.1165del NP_001171536.1:p.Thr389GlnfsTer21
XM_005247836.2:c.1165del XP_005247893.1:p.Thr389GlnfsTer21
XM_005247837.2:c.682del XP_005247894.1:p.Thr228GlnfsTer21
XM_006713789.2:c.1165del XP_006713852.1:p.Thr389GlnfsTer21
XM_011513237.1:c.1165del XP_011511539.1:p.Thr389GlnfsTer21
XM_011513238.1:c.1165del XP_011511540.1:p.Thr389GlnfsTer21
XM_011513239.1:c.577del XP_011511541.1:p.Thr193GlnfsTer21
XM_006713789.3:c.1165del XP_006713852.1:p.Thr389GlnfsTer21
XM_017007324.1:c.1165del XP_016862813.1:p.Thr389GlnfsTer21
XM_017007325.1:c.1165del XP_016862814.1:p.Thr389GlnfsTer21
NM_000388.4:c.1165del MANE Select NP_000379.3:p.Thr389GlnfsTer21
NM_001178065.2:c.1165del NP_001171536.2:p.Thr389GlnfsTer21