Canonical Allele Identifier: CA1397870989
Gene: CASR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.122257287_122257302delinsGCTCAGAGCACATTCC , CM000665.2:g.122257287_122257302delinsGCTCAGAGCACATTCC GRCh38
NC_000003.11:g.121976134_121976149delinsGCTCAGAGCACATTCC , CM000665.1:g.121976134_121976149delinsGCTCAGAGCACATTCC GRCh37
NC_000003.10:g.123458824_123458839delinsGCTCAGAGCACATTCC NCBI36
NG_009058.1:g.78605_78620delinsGCTCAGAGCACATTCC
NG_009058.2:g.78620_78635delinsGCTCAGAGCACATTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000490131.7:c.392_407delinsGCTCAGAGCACATTCC ENSP00000418685.2:p.Cys131=
ENST00000498619.4:c.392_407delinsGCTCAGAGCACATTCC ENSP00000420194.1:p.Cys131=
ENST00000638296.1:n.311_326delinsGCTCAGAGCACATTCC
ENST00000638421.1:c.392_407delinsGCTCAGAGCACATTCC ENSP00000492190.1:p.Cys131=
ENST00000639785.2:c.392_407delinsGCTCAGAGCACATTCC MANE Select ENSP00000491584.2:p.Cys131=
ENST00000490131.5:c.392_407delinsGCTCAGAGCACATTCC ENSP00000418685.1:p.Cys131=
ENST00000490186.1:n.251_266delinsGCTCAGAGCACATTCC
ENST00000498619.2:c.392_407delinsGCTCAGAGCACATTCC ENSP00000420194.1:p.Cys131=
NM_000388.3:c.392_407delinsGCTCAGAGCACATTCC NP_000379.2:p.Cys131=
NM_001178065.1:c.392_407delinsGCTCAGAGCACATTCC NP_001171536.1:p.Cys131=
XM_005247836.2:c.392_407delinsGCTCAGAGCACATTCC XP_005247893.1:p.Cys131=
XM_005247837.2:c.9+2913_9+2928delinsGCTCAGAGCACATTCC XP_005247894.1:n.9+2913_9+2928delinsGCTCAGAGCACATTCC
XM_006713789.2:c.392_407delinsGCTCAGAGCACATTCC XP_006713852.1:p.Cys131=
XM_011513237.1:c.392_407delinsGCTCAGAGCACATTCC XP_011511539.1:p.Cys131=
XM_011513238.1:c.392_407delinsGCTCAGAGCACATTCC XP_011511540.1:p.Cys131=
XM_006713789.3:c.392_407delinsGCTCAGAGCACATTCC XP_006713852.1:p.Cys131=
XM_017007324.1:c.392_407delinsGCTCAGAGCACATTCC XP_016862813.1:p.Cys131=
XM_017007325.1:c.392_407delinsGCTCAGAGCACATTCC XP_016862814.1:p.Cys131=
NM_000388.4:c.392_407delinsGCTCAGAGCACATTCC MANE Select NP_000379.3:p.Cys131=
NM_001178065.2:c.392_407delinsGCTCAGAGCACATTCC NP_001171536.2:p.Cys131=