Canonical Allele Identifier: CA2573136470

Gene: CASR

Linked Data

• ClinVar Variation Id: 1352624
• ClinVar RCV Id: RCV002039828 ; RCV004038944
• dbSNP Id: rs2107652125

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122285161del , CM000665.2:g.122285161del	GRCh38
NC_000003.11:g.122004008del , CM000665.1:g.122004008del	GRCh37
NC_000003.10:g.123486698del	NCBI36
NG_009058.1:g.106479del
NG_009058.2:g.106494del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2976del	ENSP00000418685.2:p.Ser992ArgfsTer7
ENST00000498619.4:c.3237del	ENSP00000420194.1:p.Ser1079ArgfsTer7
ENST00000638421.1:c.3207del	ENSP00000492190.1:p.Ser1069ArgfsTer7
ENST00000639785.2:c.3207del MANE Select	ENSP00000491584.2:p.Ser1069ArgfsTer7
ENST00000490131.5:c.3207del	ENSP00000418685.1:p.Ser1069ArgfsTer7
ENST00000498619.2:c.3237del	ENSP00000420194.1:p.Ser1079ArgfsTer7
NM_000388.3:c.3207del	NP_000379.2:p.Ser1069ArgfsTer7
NM_001178065.1:c.3237del	NP_001171536.1:p.Ser1079ArgfsTer7
XM_005247836.2:c.3207del	XP_005247893.1:p.Ser1069ArgfsTer7
XM_005247837.2:c.2724del	XP_005247894.1:p.Ser908ArgfsTer7
XM_006713789.2:c.3207del	XP_006713852.1:p.Ser1069ArgfsTer7
XM_011513237.1:c.3207del	XP_011511539.1:p.Ser1069ArgfsTer7
XM_011513238.1:c.3207del	XP_011511540.1:p.Ser1069ArgfsTer7
XM_011513239.1:c.2619del	XP_011511541.1:p.Ser873ArgfsTer7
XM_006713789.3:c.3207del	XP_006713852.1:p.Ser1069ArgfsTer7
XM_017007324.1:c.3207del	XP_016862813.1:p.Ser1069ArgfsTer7
XM_017007325.1:c.3207del	XP_016862814.1:p.Ser1069ArgfsTer7
NM_000388.4:c.3207del MANE Select	NP_000379.3:p.Ser1069ArgfsTer7
NM_001178065.2:c.3237del	NP_001171536.2:p.Ser1079ArgfsTer7