Canonical Allele Identifier: CA16611278

Gene: CASR

Linked Data

• ClinVar Variation Id: 410326
• ClinVar RCV Id: RCV000465913
• dbSNP Id: rs1060502847

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122254353_122254354delinsTT , CM000665.2:g.122254353_122254354delinsTT	GRCh38
NC_000003.11:g.121973200_121973201delinsTT , CM000665.1:g.121973200_121973201delinsTT	GRCh37
NC_000003.10:g.123455890_123455891delinsTT	NCBI36
NG_009058.1:g.75671_75672delinsTT
NG_009058.2:g.75686_75687delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.164_165delinsTT	ENSP00000418685.2:p.Pro55Leu
ENST00000498619.4:c.164_165delinsTT	ENSP00000420194.1:p.Pro55Leu
ENST00000638296.1:n.83_84delinsTT
ENST00000638421.1:c.164_165delinsTT	ENSP00000492190.1:p.Pro55Leu
ENST00000639785.2:c.164_165delinsTT MANE Select	ENSP00000491584.2:p.Pro55Leu
ENST00000490131.5:c.164_165delinsTT	ENSP00000418685.1:p.Pro55Leu
ENST00000490186.1:n.23_24delinsTT
ENST00000498619.2:c.164_165delinsTT	ENSP00000420194.1:p.Pro55Leu
NM_000388.3:c.164_165delinsTT	NP_000379.2:p.Pro55Leu
NM_001178065.1:c.164_165delinsTT	NP_001171536.1:p.Pro55Leu
XM_005247836.2:c.164_165delinsTT	XP_005247893.1:p.Pro55Leu
XM_005247837.2:c.-13_-12delinsTT	XP_005247894.1:n.-13_-12delinsTT
XM_006713789.2:c.164_165delinsTT	XP_006713852.1:p.Pro55Leu
XM_011513237.1:c.164_165delinsTT	XP_011511539.1:p.Pro55Leu
XM_011513238.1:c.164_165delinsTT	XP_011511540.1:p.Pro55Leu
XM_006713789.3:c.164_165delinsTT	XP_006713852.1:p.Pro55Leu
XM_017007324.1:c.164_165delinsTT	XP_016862813.1:p.Pro55Leu
XM_017007325.1:c.164_165delinsTT	XP_016862814.1:p.Pro55Leu
NM_000388.4:c.164_165delinsTT MANE Select	NP_000379.3:p.Pro55Leu
NM_001178065.2:c.164_165delinsTT	NP_001171536.2:p.Pro55Leu