Canonical Allele Identifier: CA916082595

Gene: CASR

Linked Data

• ClinVar Variation Id: 837441
• ClinVar RCV Id: RCV001038775
• dbSNP Id: rs2074946815

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284794_122284814dup , CM000665.2:g.122284794_122284814dup	GRCh38
NC_000003.11:g.122003641_122003661dup , CM000665.1:g.122003641_122003661dup	GRCh37
NC_000003.10:g.123486331_123486351dup	NCBI36
NG_009058.1:g.106112_106132dup
NG_009058.2:g.106127_106147dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2609_2629dup	ENSP00000418685.2:p.Gln876_Gln877insProLeuThrLeuProGlnGln
ENST00000498619.4:c.2870_2890dup	ENSP00000420194.1:p.Gln963_Gln964insProLeuThrLeuProGlnGln
ENST00000638421.1:c.2840_2860dup	ENSP00000492190.1:p.Gln953_Gln954insProLeuThrLeuProGlnGln
ENST00000639785.2:c.2840_2860dup MANE Select	ENSP00000491584.2:p.Gln953_Gln954insProLeuThrLeuProGlnGln
ENST00000490131.5:c.2840_2860dup	ENSP00000418685.1:p.Gln953_Gln954insProLeuThrLeuProGlnGln
ENST00000498619.2:c.2870_2890dup	ENSP00000420194.1:p.Gln963_Gln964insProLeuThrLeuProGlnGln
NM_000388.3:c.2840_2860dup	NP_000379.2:p.Gln953_Gln954insProLeuThrLeuProGlnGln
NM_001178065.1:c.2870_2890dup	NP_001171536.1:p.Gln963_Gln964insProLeuThrLeuProGlnGln
XM_005247836.2:c.2840_2860dup	XP_005247893.1:p.Gln953_Gln954insProLeuThrLeuProGlnGln
XM_005247837.2:c.2357_2377dup	XP_005247894.1:p.Gln792_Gln793insProLeuThrLeuProGlnGln
XM_006713789.2:c.2840_2860dup	XP_006713852.1:p.Gln953_Gln954insProLeuThrLeuProGlnGln
XM_011513237.1:c.2840_2860dup	XP_011511539.1:p.Gln953_Gln954insProLeuThrLeuProGlnGln
XM_011513238.1:c.2840_2860dup	XP_011511540.1:p.Gln953_Gln954insProLeuThrLeuProGlnGln
XM_011513239.1:c.2252_2272dup	XP_011511541.1:p.Gln757_Gln758insProLeuThrLeuProGlnGln
XM_006713789.3:c.2840_2860dup	XP_006713852.1:p.Gln953_Gln954insProLeuThrLeuProGlnGln
XM_017007324.1:c.2840_2860dup	XP_016862813.1:p.Gln953_Gln954insProLeuThrLeuProGlnGln
XM_017007325.1:c.2840_2860dup	XP_016862814.1:p.Gln953_Gln954insProLeuThrLeuProGlnGln
NM_000388.4:c.2840_2860dup MANE Select	NP_000379.3:p.Gln953_Gln954insProLeuThrLeuProGlnGln
NM_001178065.2:c.2870_2890dup	NP_001171536.2:p.Gln963_Gln964insProLeuThrLeuProGlnGln