Canonical Allele Identifier: CA213563
Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 35777
ClinVar RCV Id: RCV000029429
dbSNP Id: rs193922422
MyVariant Identifiers: chr3:g.121994793_121994796del (hg19) chr3:g.122275946_122275949del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122275946_122275949del , CM000665.2:g.122275946_122275949del GRCh38
NC_000003.11:g.121994793_121994796del , CM000665.1:g.121994793_121994796del GRCh37
NC_000003.10:g.123477483_123477486del NCBI36
NG_009058.1:g.97264_97267del
NG_009058.2:g.97279_97282del

Transcript Alleles

HGVS Amino-acid change
ENST00000490131.7:c.1378-6167_1378-6164del ENSP00000418685.2:n.1378-6167_1378-6164de...
ENST00000498619.4:c.1512_1515del ENSP00000420194.1:p.Phe505ArgfsTer?
ENST00000638421.1:c.1512_1515del ENSP00000492190.1:p.Phe505ArgfsTer?
ENST00000639785.2:c.1512_1515del MANE Select ENSP00000491584.2:p.Phe505ArgfsTer?
ENST00000490131.5:c.1512_1515del ENSP00000418685.1:p.Phe505ArgfsTer?
ENST00000498619.2:c.1512_1515del ENSP00000420194.1:p.Phe505ArgfsTer?
NM_000388.3:c.1512_1515del NP_000379.2:p.Phe505ArgfsTer?
NM_001178065.1:c.1512_1515del NP_001171536.1:p.Phe505ArgfsTer?
XM_005247836.2:c.1512_1515del XP_005247893.1:p.Phe505ArgfsTer?
XM_005247837.2:c.1029_1032del XP_005247894.1:p.Phe344ArgfsTer?
XM_006713789.2:c.1512_1515del XP_006713852.1:p.Phe505ArgfsTer?
XM_011513237.1:c.1512_1515del XP_011511539.1:p.Phe505ArgfsTer?
XM_011513238.1:c.1512_1515del XP_011511540.1:p.Phe505ArgfsTer?
XM_011513239.1:c.924_927del XP_011511541.1:p.Phe309ArgfsTer?
XM_006713789.3:c.1512_1515del XP_006713852.1:p.Phe505ArgfsTer?
XM_017007324.1:c.1512_1515del XP_016862813.1:p.Phe505ArgfsTer?
XM_017007325.1:c.1512_1515del XP_016862814.1:p.Phe505ArgfsTer?
NM_000388.4:c.1512_1515del MANE Select NP_000379.3:p.Phe505ArgfsTer?
NM_001178065.2:c.1512_1515del NP_001171536.2:p.Phe505ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'