Canonical Allele Identifier: CA2580616521

Gene: CASR

Linked Data

• ClinVar Variation Id: 1424823
• ClinVar RCV Id: RCV001957266
• dbSNP Id: rs2107651405

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284830_122284832del , CM000665.2:g.122284830_122284832del	GRCh38
NC_000003.11:g.122003677_122003679del , CM000665.1:g.122003677_122003679del	GRCh37
NC_000003.10:g.123486367_123486369del	NCBI36
NG_009058.1:g.106148_106150del
NG_009058.2:g.106163_106165del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2645_2647del	ENSP00000418685.2:p.Gln882del
ENST00000498619.4:c.2906_2908del	ENSP00000420194.1:p.Gln969del
ENST00000638421.1:c.2876_2878del	ENSP00000492190.1:p.Gln959del
ENST00000639785.2:c.2876_2878del MANE Select	ENSP00000491584.2:p.Gln959del
ENST00000490131.5:c.2876_2878del	ENSP00000418685.1:p.Gln959del
ENST00000498619.2:c.2906_2908del	ENSP00000420194.1:p.Gln969del
NM_000388.3:c.2876_2878del	NP_000379.2:p.Gln959del
NM_001178065.1:c.2906_2908del	NP_001171536.1:p.Gln969del
XM_005247836.2:c.2876_2878del	XP_005247893.1:p.Gln959del
XM_005247837.2:c.2393_2395del	XP_005247894.1:p.Gln798del
XM_006713789.2:c.2876_2878del	XP_006713852.1:p.Gln959del
XM_011513237.1:c.2876_2878del	XP_011511539.1:p.Gln959del
XM_011513238.1:c.2876_2878del	XP_011511540.1:p.Gln959del
XM_011513239.1:c.2288_2290del	XP_011511541.1:p.Gln763del
XM_006713789.3:c.2876_2878del	XP_006713852.1:p.Gln959del
XM_017007324.1:c.2876_2878del	XP_016862813.1:p.Gln959del
XM_017007325.1:c.2876_2878del	XP_016862814.1:p.Gln959del
NM_000388.4:c.2876_2878del MANE Select	NP_000379.3:p.Gln959del
NM_001178065.2:c.2906_2908del	NP_001171536.2:p.Gln969del