Canonical Allele Identifier: CA213574
Gene: CASR HGNC NCBI

Linked Data

ClinVar Variation Id: 35784
ClinVar RCV Id: RCV000029436
dbSNP Id: rs193922429
MyVariant Identifiers: chr3:g.122002685del (hg19) chr3:g.122283838del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122283838del , CM000665.2:g.122283838del GRCh38
NC_000003.11:g.122002685del , CM000665.1:g.122002685del GRCh37
NC_000003.10:g.123485375del NCBI36
NG_009058.1:g.105156del
NG_009058.2:g.105171del

Transcript Alleles

HGVS Amino-acid change
ENST00000490131.7:c.1653del ENSP00000418685.2:p.Phe552LeufsTer?
ENST00000498619.4:c.1914del ENSP00000420194.1:p.Phe639LeufsTer?
ENST00000638421.1:c.1884del ENSP00000492190.1:p.Phe629LeufsTer?
ENST00000639785.2:c.1884del MANE Select ENSP00000491584.2:p.Phe629LeufsTer?
ENST00000490131.5:c.1884del ENSP00000418685.1:p.Phe629LeufsTer?
ENST00000498619.2:c.1914del ENSP00000420194.1:p.Phe639LeufsTer?
NM_000388.3:c.1884del NP_000379.2:p.Phe629LeufsTer?
NM_001178065.1:c.1914del NP_001171536.1:p.Phe639LeufsTer?
XM_005247836.2:c.1884del XP_005247893.1:p.Phe629LeufsTer?
XM_005247837.2:c.1401del XP_005247894.1:p.Phe468LeufsTer?
XM_006713789.2:c.1884del XP_006713852.1:p.Phe629LeufsTer?
XM_011513237.1:c.1884del XP_011511539.1:p.Phe629LeufsTer?
XM_011513238.1:c.1884del XP_011511540.1:p.Phe629LeufsTer?
XM_011513239.1:c.1296del XP_011511541.1:p.Phe433LeufsTer?
XM_006713789.3:c.1884del XP_006713852.1:p.Phe629LeufsTer?
XM_017007324.1:c.1884del XP_016862813.1:p.Phe629LeufsTer?
XM_017007325.1:c.1884del XP_016862814.1:p.Phe629LeufsTer?
NM_000388.4:c.1884del MANE Select NP_000379.3:p.Phe629LeufsTer?
NM_001178065.2:c.1914del NP_001171536.2:p.Phe639LeufsTer?
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