Canonical Allele Identifier: CA1397872740
Gene: CASR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122284615_122284631delinsCACGCTGCGCCGCAGCA , CM000665.2:g.122284615_122284631delinsCACGCTGCGCCGCAGCA GRCh38
NC_000003.11:g.122003462_122003478delinsCACGCTGCGCCGCAGCA , CM000665.1:g.122003462_122003478delinsCACGCTGCGCCGCAGCA GRCh37
NC_000003.10:g.123486152_123486168delinsCACGCTGCGCCGCAGCA NCBI36
NG_009058.1:g.105933_105949delinsCACGCTGCGCCGCAGCA
NG_009058.2:g.105948_105964delinsCACGCTGCGCCGCAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.2430_2446delinsCACGCTGCGCCGCAGCA ENSP00000418685.2:p.Ala810=
ENST00000498619.4:c.2691_2707delinsCACGCTGCGCCGCAGCA ENSP00000420194.1:p.Ala897=
ENST00000638421.1:c.2661_2677delinsCACGCTGCGCCGCAGCA ENSP00000492190.1:p.Ala887=
ENST00000639785.2:c.2661_2677delinsCACGCTGCGCCGCAGCA MANE Select ENSP00000491584.2:p.Ala887=
ENST00000490131.5:c.2661_2677delinsCACGCTGCGCCGCAGCA ENSP00000418685.1:p.Ala887=
ENST00000498619.2:c.2691_2707delinsCACGCTGCGCCGCAGCA ENSP00000420194.1:p.Ala897=
NM_000388.3:c.2661_2677delinsCACGCTGCGCCGCAGCA NP_000379.2:p.Ala887=
NM_001178065.1:c.2691_2707delinsCACGCTGCGCCGCAGCA NP_001171536.1:p.Ala897=
XM_005247836.2:c.2661_2677delinsCACGCTGCGCCGCAGCA XP_005247893.1:p.Ala887=
XM_005247837.2:c.2178_2194delinsCACGCTGCGCCGCAGCA XP_005247894.1:p.Ala726=
XM_006713789.2:c.2661_2677delinsCACGCTGCGCCGCAGCA XP_006713852.1:p.Ala887=
XM_011513237.1:c.2661_2677delinsCACGCTGCGCCGCAGCA XP_011511539.1:p.Ala887=
XM_011513238.1:c.2661_2677delinsCACGCTGCGCCGCAGCA XP_011511540.1:p.Ala887=
XM_011513239.1:c.2073_2089delinsCACGCTGCGCCGCAGCA XP_011511541.1:p.Ala691=
XM_006713789.3:c.2661_2677delinsCACGCTGCGCCGCAGCA XP_006713852.1:p.Ala887=
XM_017007324.1:c.2661_2677delinsCACGCTGCGCCGCAGCA XP_016862813.1:p.Ala887=
XM_017007325.1:c.2661_2677delinsCACGCTGCGCCGCAGCA XP_016862814.1:p.Ala887=
NM_000388.4:c.2661_2677delinsCACGCTGCGCCGCAGCA MANE Select NP_000379.3:p.Ala887=
NM_001178065.2:c.2691_2707delinsCACGCTGCGCCGCAGCA NP_001171536.2:p.Ala897=