Canonical Allele Identifier: CA1397872941

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284778_122284781delinsGAGC , CM000665.2:g.122284778_122284781delinsGAGC	GRCh38
NC_000003.11:g.122003625_122003628delinsGAGC , CM000665.1:g.122003625_122003628delinsGAGC	GRCh37
NC_000003.10:g.123486315_123486318delinsGAGC	NCBI36
NG_009058.1:g.106096_106099delinsGAGC
NG_009058.2:g.106111_106114delinsGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2593_2596delinsGAGC	ENSP00000418685.2:p.Glu865=
ENST00000498619.4:c.2854_2857delinsGAGC	ENSP00000420194.1:p.Glu952=
ENST00000638421.1:c.2824_2827delinsGAGC	ENSP00000492190.1:p.Glu942=
ENST00000639785.2:c.2824_2827delinsGAGC MANE Select	ENSP00000491584.2:p.Glu942=
ENST00000490131.5:c.2824_2827delinsGAGC	ENSP00000418685.1:p.Glu942=
ENST00000498619.2:c.2854_2857delinsGAGC	ENSP00000420194.1:p.Glu952=
NM_000388.3:c.2824_2827delinsGAGC	NP_000379.2:p.Glu942=
NM_001178065.1:c.2854_2857delinsGAGC	NP_001171536.1:p.Glu952=
XM_005247836.2:c.2824_2827delinsGAGC	XP_005247893.1:p.Glu942=
XM_005247837.2:c.2341_2344delinsGAGC	XP_005247894.1:p.Glu781=
XM_006713789.2:c.2824_2827delinsGAGC	XP_006713852.1:p.Glu942=
XM_011513237.1:c.2824_2827delinsGAGC	XP_011511539.1:p.Glu942=
XM_011513238.1:c.2824_2827delinsGAGC	XP_011511540.1:p.Glu942=
XM_011513239.1:c.2236_2239delinsGAGC	XP_011511541.1:p.Glu746=
XM_006713789.3:c.2824_2827delinsGAGC	XP_006713852.1:p.Glu942=
XM_017007324.1:c.2824_2827delinsGAGC	XP_016862813.1:p.Glu942=
XM_017007325.1:c.2824_2827delinsGAGC	XP_016862814.1:p.Glu942=
NM_000388.4:c.2824_2827delinsGAGC MANE Select	NP_000379.3:p.Glu942=
NM_001178065.2:c.2854_2857delinsGAGC	NP_001171536.2:p.Glu952=