Canonical Allele Identifier: CA2573136466

Gene: CASR

Linked Data

• ClinVar Variation Id: 1408979
• ClinVar RCV Id: RCV001913409
• dbSNP Id: rs2107650671

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284487_122284499del , CM000665.2:g.122284487_122284499del	GRCh38
NC_000003.11:g.122003334_122003346del , CM000665.1:g.122003334_122003346del	GRCh37
NC_000003.10:g.123486024_123486036del	NCBI36
NG_009058.1:g.105805_105817del
NG_009058.2:g.105820_105832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2302_2314del	ENSP00000418685.2:p.Ser768TrpfsTer?
ENST00000498619.4:c.2563_2575del	ENSP00000420194.1:p.Ser855TrpfsTer?
ENST00000638421.1:c.2533_2545del	ENSP00000492190.1:p.Ser845TrpfsTer?
ENST00000639785.2:c.2533_2545del MANE Select	ENSP00000491584.2:p.Ser845TrpfsTer?
ENST00000490131.5:c.2533_2545del	ENSP00000418685.1:p.Ser845TrpfsTer?
ENST00000498619.2:c.2563_2575del	ENSP00000420194.1:p.Ser855TrpfsTer?
NM_000388.3:c.2533_2545del	NP_000379.2:p.Ser845TrpfsTer?
NM_001178065.1:c.2563_2575del	NP_001171536.1:p.Ser855TrpfsTer?
XM_005247836.2:c.2533_2545del	XP_005247893.1:p.Ser845TrpfsTer?
XM_005247837.2:c.2050_2062del	XP_005247894.1:p.Ser684TrpfsTer?
XM_006713789.2:c.2533_2545del	XP_006713852.1:p.Ser845TrpfsTer?
XM_011513237.1:c.2533_2545del	XP_011511539.1:p.Ser845TrpfsTer?
XM_011513238.1:c.2533_2545del	XP_011511540.1:p.Ser845TrpfsTer?
XM_011513239.1:c.1945_1957del	XP_011511541.1:p.Ser649TrpfsTer?
XM_006713789.3:c.2533_2545del	XP_006713852.1:p.Ser845TrpfsTer?
XM_017007324.1:c.2533_2545del	XP_016862813.1:p.Ser845TrpfsTer?
XM_017007325.1:c.2533_2545del	XP_016862814.1:p.Ser845TrpfsTer?
NM_000388.4:c.2533_2545del MANE Select	NP_000379.3:p.Ser845TrpfsTer?
NM_001178065.2:c.2563_2575del	NP_001171536.2:p.Ser855TrpfsTer?