Canonical Allele Identifier: CA2580068638

Gene: CASR

Linked Data

• ClinVar Variation Id: 2062024
• ClinVar RCV Id: RCV002923476

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122261807_122261808delinsA , CM000665.2:g.122261807_122261808delinsA	GRCh38
NC_000003.11:g.121980654_121980655delinsA , CM000665.1:g.121980654_121980655delinsA	GRCh37
NC_000003.10:g.123463344_123463345delinsA	NCBI36
NG_009058.1:g.83125_83126delinsA
NG_009058.2:g.83140_83141delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.772_773delinsA	ENSP00000418685.2:p.Val258ArgfsTer?
ENST00000498619.4:c.772_773delinsA	ENSP00000420194.1:p.Val258ArgfsTer?
ENST00000638421.1:c.772_773delinsA	ENSP00000492190.1:p.Val258ArgfsTer?
ENST00000639785.2:c.772_773delinsA MANE Select	ENSP00000491584.2:p.Val258ArgfsTer?
ENST00000490131.5:c.772_773delinsA	ENSP00000418685.1:p.Val258ArgfsTer?
ENST00000498619.2:c.772_773delinsA	ENSP00000420194.1:p.Val258ArgfsTer?
NM_000388.3:c.772_773delinsA	NP_000379.2:p.Val258ArgfsTer?
NM_001178065.1:c.772_773delinsA	NP_001171536.1:p.Val258ArgfsTer?
XM_005247836.2:c.772_773delinsA	XP_005247893.1:p.Val258ArgfsTer?
XM_005247837.2:c.289_290delinsA	XP_005247894.1:p.Val97ArgfsTer?
XM_006713789.2:c.772_773delinsA	XP_006713852.1:p.Val258ArgfsTer?
XM_011513237.1:c.772_773delinsA	XP_011511539.1:p.Val258ArgfsTer?
XM_011513238.1:c.772_773delinsA	XP_011511540.1:p.Val258ArgfsTer?
XM_011513239.1:c.184_185delinsA	XP_011511541.1:p.Val62ArgfsTer?
XM_006713789.3:c.772_773delinsA	XP_006713852.1:p.Val258ArgfsTer?
XM_017007324.1:c.772_773delinsA	XP_016862813.1:p.Val258ArgfsTer?
XM_017007325.1:c.772_773delinsA	XP_016862814.1:p.Val258ArgfsTer?
NM_000388.4:c.772_773delinsA MANE Select	NP_000379.3:p.Val258ArgfsTer?
NM_001178065.2:c.772_773delinsA	NP_001171536.2:p.Val258ArgfsTer?