Canonical Allele Identifier: CA2573136436

Gene: CASR

Linked Data

• ClinVar Variation Id: 1460173
• ClinVar RCV Id: RCV001983000
• dbSNP Id: rs2107624936

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122254301_122254302insC , CM000665.2:g.122254301_122254302insC	GRCh38
NC_000003.11:g.121973148_121973149insC , CM000665.1:g.121973148_121973149insC	GRCh37
NC_000003.10:g.123455838_123455839insC	NCBI36
NG_009058.1:g.75619_75620insC
NG_009058.2:g.75634_75635insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.112_113insC	ENSP00000418685.2:p.Phe38SerfsTer10
ENST00000498619.4:c.112_113insC	ENSP00000420194.1:p.Phe38SerfsTer10
ENST00000638296.1:n.31_32insC
ENST00000638421.1:c.112_113insC	ENSP00000492190.1:p.Phe38SerfsTer10
ENST00000639785.2:c.112_113insC MANE Select	ENSP00000491584.2:p.Phe38SerfsTer10
ENST00000490131.5:c.112_113insC	ENSP00000418685.1:p.Phe38SerfsTer10
ENST00000498619.2:c.112_113insC	ENSP00000420194.1:p.Phe38SerfsTer10
NM_000388.3:c.112_113insC	NP_000379.2:p.Phe38SerfsTer10
NM_001178065.1:c.112_113insC	NP_001171536.1:p.Phe38SerfsTer10
XM_005247836.2:c.112_113insC	XP_005247893.1:p.Phe38SerfsTer10
XM_005247837.2:c.-65_-64insC	XP_005247894.1:n.-65_-64insC
XM_006713789.2:c.112_113insC	XP_006713852.1:p.Phe38SerfsTer10
XM_011513237.1:c.112_113insC	XP_011511539.1:p.Phe38SerfsTer10
XM_011513238.1:c.112_113insC	XP_011511540.1:p.Phe38SerfsTer10
XM_006713789.3:c.112_113insC	XP_006713852.1:p.Phe38SerfsTer10
XM_017007324.1:c.112_113insC	XP_016862813.1:p.Phe38SerfsTer10
XM_017007325.1:c.112_113insC	XP_016862814.1:p.Phe38SerfsTer10
NM_000388.4:c.112_113insC MANE Select	NP_000379.3:p.Phe38SerfsTer10
NM_001178065.2:c.112_113insC	NP_001171536.2:p.Phe38SerfsTer10