Canonical Allele Identifier: CA2520567564

Gene: CASR

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122257602_122257603insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA , CM000665.2:g.122257602_122257603insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	GRCh38
NC_000003.11:g.121976449_121976450insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA , CM000665.1:g.121976449_121976450insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	GRCh37
NC_000003.10:g.123459139_123459140insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	NCBI36
NG_009058.1:g.78920_78921insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA
NG_009058.2:g.78935_78936insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	ENSP00000418685.2:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGAT...
ENST00000498619.4:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	ENSP00000420194.1:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGAT...
ENST00000638296.1:n.626_627insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA
ENST00000638421.1:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	ENSP00000492190.1:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGAT...
ENST00000639785.2:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA MANE Select	ENSP00000491584.2:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGAT...
ENST00000490131.5:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	ENSP00000418685.1:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGAT...
ENST00000490186.1:n.566_567insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA
ENST00000498619.2:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	ENSP00000420194.1:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGAT...
NM_000388.3:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	NP_000379.2:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGA...
NM_001178065.1:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	NP_001171536.1:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTAT...
XM_005247836.2:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	XP_005247893.1:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTAT...
XM_005247837.2:c.9+3228_9+3229insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	XP_005247894.1:n.9+3228_9+3229insAGGATCTAAGTTATCTGAAAGATTATAG...
XM_006713789.2:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	XP_006713852.1:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTAT...
XM_011513237.1:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	XP_011511539.1:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTAT...
XM_011513238.1:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	XP_011511540.1:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTAT...
XM_006713789.3:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	XP_006713852.1:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTAT...
XM_017007324.1:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	XP_016862813.1:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTAT...
XM_017007325.1:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	XP_016862814.1:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTAT...
NM_000388.4:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA MANE Select	NP_000379.3:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGA...
NM_001178065.2:c.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTATAGAAATGGCAAGCATATAAGAAATCAGGTATAGCATTAATAGATAGTTCTCAAGAAGGACGATTAGGTTCTGGATAGGCTCCAATTAATACTATATATAATGGA	NP_001171536.2:n.492+215_492+216insAGGATCTAAGTTATCTGAAAGATTAT...