Canonical Allele Identifier: CA915941546

Gene: CASR

Linked Data

• ClinVar Variation Id: 664654
• ClinVar RCV Id: RCV000822790
• dbSNP Id: rs1576854561

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257343_122257344dup , CM000665.2:g.122257343_122257344dup	GRCh38
NC_000003.11:g.121976190_121976191dup , CM000665.1:g.121976190_121976191dup	GRCh37
NC_000003.10:g.123458880_123458881dup	NCBI36
NG_009058.1:g.78661_78662dup
NG_009058.2:g.78676_78677dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.448_449dup	ENSP00000418685.2:p.Thr151ProfsTer?
ENST00000498619.4:c.448_449dup	ENSP00000420194.1:p.Thr151ProfsTer?
ENST00000638296.1:n.367_368dup
ENST00000638421.1:c.448_449dup	ENSP00000492190.1:p.Thr151ProfsTer?
ENST00000639785.2:c.448_449dup MANE Select	ENSP00000491584.2:p.Thr151ProfsTer?
ENST00000490131.5:c.448_449dup	ENSP00000418685.1:p.Thr151ProfsTer?
ENST00000490186.1:n.307_308dup
ENST00000498619.2:c.448_449dup	ENSP00000420194.1:p.Thr151ProfsTer?
NM_000388.3:c.448_449dup	NP_000379.2:p.Thr151ProfsTer?
NM_001178065.1:c.448_449dup	NP_001171536.1:p.Thr151ProfsTer?
XM_005247836.2:c.448_449dup	XP_005247893.1:p.Thr151ProfsTer?
XM_005247837.2:c.9+2969_9+2970dup	XP_005247894.1:n.9+2969_9+2970dup
XM_006713789.2:c.448_449dup	XP_006713852.1:p.Thr151ProfsTer?
XM_011513237.1:c.448_449dup	XP_011511539.1:p.Thr151ProfsTer?
XM_011513238.1:c.448_449dup	XP_011511540.1:p.Thr151ProfsTer?
XM_006713789.3:c.448_449dup	XP_006713852.1:p.Thr151ProfsTer?
XM_017007324.1:c.448_449dup	XP_016862813.1:p.Thr151ProfsTer?
XM_017007325.1:c.448_449dup	XP_016862814.1:p.Thr151ProfsTer?
NM_000388.4:c.448_449dup MANE Select	NP_000379.3:p.Thr151ProfsTer?
NM_001178065.2:c.448_449dup	NP_001171536.2:p.Thr151ProfsTer?