Canonical Allele Identifier: CA2758179111

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122275994_122275995insGATGAGGCTGTGGGCAAAGCC , CM000665.2:g.122275994_122275995insGATGAGGCTGTGGGCAAAGCC	GRCh38
NC_000003.11:g.121994841_121994842insGATGAGGCTGTGGGCAAAGCC , CM000665.1:g.121994841_121994842insGATGAGGCTGTGGGCAAAGCC	GRCh37
NC_000003.10:g.123477531_123477532insGATGAGGCTGTGGGCAAAGCC	NCBI36
NG_009058.1:g.97312_97313insGATGAGGCTGTGGGCAAAGCC
NG_009058.2:g.97327_97328insGATGAGGCTGTGGGCAAAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1378-6119_1378-6118insGATGAGGCTGTGGGCAAAGCC	ENSP00000418685.2:n.1378-6119_1378-6118insGATGAGGCTGTGGGCAAAG...
ENST00000498619.4:c.1560_1561insGATGAGGCTGTGGGCAAAGCC	ENSP00000420194.1:p.Arg520_Leu521insAspGluAlaValGlyLysAla
ENST00000638421.1:c.1560_1561insGATGAGGCTGTGGGCAAAGCC	ENSP00000492190.1:p.Arg520_Leu521insAspGluAlaValGlyLysAla
ENST00000639785.2:c.1560_1561insGATGAGGCTGTGGGCAAAGCC MANE Select	ENSP00000491584.2:p.Arg520_Leu521insAspGluAlaValGlyLysAla
ENST00000490131.5:c.1560_1561insGATGAGGCTGTGGGCAAAGCC	ENSP00000418685.1:p.Arg520_Leu521insAspGluAlaValGlyLysAla
ENST00000498619.2:c.1560_1561insGATGAGGCTGTGGGCAAAGCC	ENSP00000420194.1:p.Arg520_Leu521insAspGluAlaValGlyLysAla
NM_000388.3:c.1560_1561insGATGAGGCTGTGGGCAAAGCC	NP_000379.2:p.Arg520_Leu521insAspGluAlaValGlyLysAla
NM_001178065.1:c.1560_1561insGATGAGGCTGTGGGCAAAGCC	NP_001171536.1:p.Arg520_Leu521insAspGluAlaValGlyLysAla
XM_005247836.2:c.1560_1561insGATGAGGCTGTGGGCAAAGCC	XP_005247893.1:p.Arg520_Leu521insAspGluAlaValGlyLysAla
XM_005247837.2:c.1077_1078insGATGAGGCTGTGGGCAAAGCC	XP_005247894.1:p.Arg359_Leu360insAspGluAlaValGlyLysAla
XM_006713789.2:c.1560_1561insGATGAGGCTGTGGGCAAAGCC	XP_006713852.1:p.Arg520_Leu521insAspGluAlaValGlyLysAla
XM_011513237.1:c.1560_1561insGATGAGGCTGTGGGCAAAGCC	XP_011511539.1:p.Arg520_Leu521insAspGluAlaValGlyLysAla
XM_011513238.1:c.1560_1561insGATGAGGCTGTGGGCAAAGCC	XP_011511540.1:p.Arg520_Leu521insAspGluAlaValGlyLysAla
XM_011513239.1:c.972_973insGATGAGGCTGTGGGCAAAGCC	XP_011511541.1:p.Arg324_Leu325insAspGluAlaValGlyLysAla
XM_006713789.3:c.1560_1561insGATGAGGCTGTGGGCAAAGCC	XP_006713852.1:p.Arg520_Leu521insAspGluAlaValGlyLysAla
XM_017007324.1:c.1560_1561insGATGAGGCTGTGGGCAAAGCC	XP_016862813.1:p.Arg520_Leu521insAspGluAlaValGlyLysAla
XM_017007325.1:c.1560_1561insGATGAGGCTGTGGGCAAAGCC	XP_016862814.1:p.Arg520_Leu521insAspGluAlaValGlyLysAla
NM_000388.4:c.1560_1561insGATGAGGCTGTGGGCAAAGCC MANE Select	NP_000379.3:p.Arg520_Leu521insAspGluAlaValGlyLysAla
NM_001178065.2:c.1560_1561insGATGAGGCTGTGGGCAAAGCC	NP_001171536.2:p.Arg520_Leu521insAspGluAlaValGlyLysAla