Canonical Allele Identifier: CA2573136461

Gene: CASR

Linked Data

• ClinVar Variation Id: 1442665
• ClinVar RCV Id: RCV001969907
• dbSNP Id: rs2107650178

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284198_122284199delinsCG , CM000665.2:g.122284198_122284199delinsCG	GRCh38
NC_000003.11:g.122003045_122003046delinsCG , CM000665.1:g.122003045_122003046delinsCG	GRCh37
NC_000003.10:g.123485735_123485736delinsCG	NCBI36
NG_009058.2:g.105531_105532delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2013_2014delinsCG	ENSP00000418685.2:p.Ser672Ala
ENST00000498619.4:c.2274_2275delinsCG	ENSP00000420194.1:p.Ser759Ala
ENST00000638421.1:c.2244_2245delinsCG	ENSP00000492190.1:p.Ser749Ala
ENST00000639785.2:c.2244_2245delinsCG MANE Select	ENSP00000491584.2:p.Ser749Ala
ENST00000490131.5:c.2244_2245delinsCG	ENSP00000418685.1:p.Ser749Ala
ENST00000498619.2:c.2274_2275delinsCG	ENSP00000420194.1:p.Ser759Ala
XM_005247836.2:c.2244_2245delinsCG	XP_005247893.1:p.Ser749Ala
XM_005247837.2:c.1761_1762delinsCG	XP_005247894.1:p.Ser588Ala
XM_006713789.2:c.2244_2245delinsCG	XP_006713852.1:p.Ser749Ala
XM_011513237.1:c.2244_2245delinsCG	XP_011511539.1:p.Ser749Ala
XM_011513238.1:c.2244_2245delinsCG	XP_011511540.1:p.Ser749Ala
XM_011513239.1:c.1656_1657delinsCG	XP_011511541.1:p.Ser553Ala
XM_006713789.3:c.2244_2245delinsCG	XP_006713852.1:p.Ser749Ala
XM_017007324.1:c.2244_2245delinsCG	XP_016862813.1:p.Ser749Ala
XM_017007325.1:c.2244_2245delinsCG	XP_016862814.1:p.Ser749Ala
NM_000388.4:c.2244_2245delinsCG MANE Select	NP_000379.3:p.Ser749Ala
NM_001178065.2:c.2274_2275delinsCG	NP_001171536.2:p.Ser759Ala