Canonical Allele Identifier: CA1397872910

Gene: CASR

Linked Data

• ClinVar Variation Id: 1012068
• ClinVar RCV Id: RCV001309963 ; RCV002499592 ; RCV004034223
• dbSNP Id: rs2074946020
• gnomAD v4: 3-122284745-A-AAGCAGCAGCAGCCGCTGGCCCTAACCCAGCAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284758_122284790dup , CM000665.2:g.122284758_122284790dup	GRCh38
NC_000003.11:g.122003605_122003637dup , CM000665.1:g.122003605_122003637dup	GRCh37
NC_000003.10:g.123486295_123486327dup	NCBI36
NG_009058.1:g.106076_106108dup
NG_009058.2:g.106091_106123dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2573_2605dup	ENSP00000418685.2:p.Gln868_Gln869insProLeuAlaLeuThrGlnGlnGluG...
ENST00000498619.4:c.2834_2866dup	ENSP00000420194.1:p.Gln955_Gln956insProLeuAlaLeuThrGlnGlnGluG...
ENST00000638421.1:c.2804_2836dup	ENSP00000492190.1:p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluG...
ENST00000639785.2:c.2804_2836dup MANE Select	ENSP00000491584.2:p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluG...
ENST00000490131.5:c.2804_2836dup	ENSP00000418685.1:p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluG...
ENST00000498619.2:c.2834_2866dup	ENSP00000420194.1:p.Gln955_Gln956insProLeuAlaLeuThrGlnGlnGluG...
NM_000388.3:c.2804_2836dup	NP_000379.2:p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluGlnGlnG...
NM_001178065.1:c.2834_2866dup	NP_001171536.1:p.Gln955_Gln956insProLeuAlaLeuThrGlnGlnGluGlnG...
XM_005247836.2:c.2804_2836dup	XP_005247893.1:p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluGlnG...
XM_005247837.2:c.2321_2353dup	XP_005247894.1:p.Gln784_Gln785insProLeuAlaLeuThrGlnGlnGluGlnG...
XM_006713789.2:c.2804_2836dup	XP_006713852.1:p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluGlnG...
XM_011513237.1:c.2804_2836dup	XP_011511539.1:p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluGlnG...
XM_011513238.1:c.2804_2836dup	XP_011511540.1:p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluGlnG...
XM_011513239.1:c.2216_2248dup	XP_011511541.1:p.Gln749_Gln750insProLeuAlaLeuThrGlnGlnGluGlnG...
XM_006713789.3:c.2804_2836dup	XP_006713852.1:p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluGlnG...
XM_017007324.1:c.2804_2836dup	XP_016862813.1:p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluGlnG...
XM_017007325.1:c.2804_2836dup	XP_016862814.1:p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluGlnG...
NM_000388.4:c.2804_2836dup MANE Select	NP_000379.3:p.Gln945_Gln946insProLeuAlaLeuThrGlnGlnGluGlnGlnG...
NM_001178065.2:c.2834_2866dup	NP_001171536.2:p.Gln955_Gln956insProLeuAlaLeuThrGlnGlnGluGlnG...