Canonical Allele Identifier: CA2573136464

Gene: CASR

Linked Data

• ClinVar Variation Id: 1376400
• ClinVar RCV Id: RCV001885869
• dbSNP Id: rs2107643705

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122275991_122275994del , CM000665.2:g.122275991_122275994del	GRCh38
NC_000003.11:g.121994838_121994841del , CM000665.1:g.121994838_121994841del	GRCh37
NC_000003.10:g.123477528_123477531del	NCBI36
NG_009058.1:g.97309_97312del
NG_009058.2:g.97324_97327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.1378-6122_1378-6119del	ENSP00000418685.2:n.1378-6122_1378-6119del
ENST00000498619.4:c.1557_1560del	ENSP00000420194.1:p.Glu519AspfsTer?
ENST00000638421.1:c.1557_1560del	ENSP00000492190.1:p.Glu519AspfsTer?
ENST00000639785.2:c.1557_1560del MANE Select	ENSP00000491584.2:p.Glu519AspfsTer?
ENST00000490131.5:c.1557_1560del	ENSP00000418685.1:p.Glu519AspfsTer?
ENST00000498619.2:c.1557_1560del	ENSP00000420194.1:p.Glu519AspfsTer?
NM_000388.3:c.1557_1560del	NP_000379.2:p.Glu519AspfsTer?
NM_001178065.1:c.1557_1560del	NP_001171536.1:p.Glu519AspfsTer?
XM_005247836.2:c.1557_1560del	XP_005247893.1:p.Glu519AspfsTer?
XM_005247837.2:c.1074_1077del	XP_005247894.1:p.Glu358AspfsTer?
XM_006713789.2:c.1557_1560del	XP_006713852.1:p.Glu519AspfsTer?
XM_011513237.1:c.1557_1560del	XP_011511539.1:p.Glu519AspfsTer?
XM_011513238.1:c.1557_1560del	XP_011511540.1:p.Glu519AspfsTer?
XM_011513239.1:c.969_972del	XP_011511541.1:p.Glu323AspfsTer?
XM_006713789.3:c.1557_1560del	XP_006713852.1:p.Glu519AspfsTer?
XM_017007324.1:c.1557_1560del	XP_016862813.1:p.Glu519AspfsTer?
XM_017007325.1:c.1557_1560del	XP_016862814.1:p.Glu519AspfsTer?
NM_000388.4:c.1557_1560del MANE Select	NP_000379.3:p.Glu519AspfsTer?
NM_001178065.2:c.1557_1560del	NP_001171536.2:p.Glu519AspfsTer?