Canonical Allele Identifier: CA2499216417

Gene: CASR

Linked Data

• ClinVar Variation Id: 1063034
• ClinVar RCV Id: RCV001372832
• dbSNP Id: rs2107651889

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122285036del , CM000665.2:g.122285036del	GRCh38
NC_000003.11:g.122003883del , CM000665.1:g.122003883del	GRCh37
NC_000003.10:g.123486573del	NCBI36
NG_009058.1:g.106354del
NG_009058.2:g.106369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2851del	ENSP00000418685.2:p.Gln951ArgfsTer28
ENST00000498619.4:c.3112del	ENSP00000420194.1:p.Gln1038ArgfsTer28
ENST00000638421.1:c.3082del	ENSP00000492190.1:p.Gln1028ArgfsTer28
ENST00000639785.2:c.3082del MANE Select	ENSP00000491584.2:p.Gln1028ArgfsTer28
ENST00000490131.5:c.3082del	ENSP00000418685.1:p.Gln1028ArgfsTer28
ENST00000498619.2:c.3112del	ENSP00000420194.1:p.Gln1038ArgfsTer28
NM_000388.3:c.3082del	NP_000379.2:p.Gln1028ArgfsTer28
NM_001178065.1:c.3112del	NP_001171536.1:p.Gln1038ArgfsTer28
XM_005247836.2:c.3082del	XP_005247893.1:p.Gln1028ArgfsTer28
XM_005247837.2:c.2599del	XP_005247894.1:p.Gln867ArgfsTer28
XM_006713789.2:c.3082del	XP_006713852.1:p.Gln1028ArgfsTer28
XM_011513237.1:c.3082del	XP_011511539.1:p.Gln1028ArgfsTer28
XM_011513238.1:c.3082del	XP_011511540.1:p.Gln1028ArgfsTer28
XM_011513239.1:c.2494del	XP_011511541.1:p.Gln832ArgfsTer28
XM_006713789.3:c.3082del	XP_006713852.1:p.Gln1028ArgfsTer28
XM_017007324.1:c.3082del	XP_016862813.1:p.Gln1028ArgfsTer28
XM_017007325.1:c.3082del	XP_016862814.1:p.Gln1028ArgfsTer28
NM_000388.4:c.3082del MANE Select	NP_000379.3:p.Gln1028ArgfsTer28
NM_001178065.2:c.3112del	NP_001171536.2:p.Gln1038ArgfsTer28