Canonical Allele Identifier: CA545962776

Gene: CASR

Linked Data

• ClinVar Variation Id: 1425413
• ClinVar RCV Id: RCV001957412
• dbSNP Id: rs1559969726
• gnomAD v2: 3-122003630-G-GCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCT
• gnomAD v4: 3-122284783-G-GCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCT
• MyVariant Identifiers: chr3:g.122003630_122003631insCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCT (hg19) ; chr3:g.122284783_122284784insCAGCAGCAGCCCCTGACCCTCCCACAGCAGCAACGATCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284796_122284834dup , CM000665.2:g.122284796_122284834dup	GRCh38
NC_000003.11:g.122003643_122003681dup , CM000665.1:g.122003643_122003681dup	GRCh37
NC_000003.10:g.123486333_123486371dup	NCBI36
NG_009058.1:g.106114_106152dup
NG_009058.2:g.106129_106167dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2611_2649dup	ENSP00000418685.2:p.Pro883_Arg884insLeuThrLeuProGlnGlnGlnArgS...
ENST00000498619.4:c.2872_2910dup	ENSP00000420194.1:p.Pro970_Arg971insLeuThrLeuProGlnGlnGlnArgS...
ENST00000638421.1:c.2842_2880dup	ENSP00000492190.1:p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgS...
ENST00000639785.2:c.2842_2880dup MANE Select	ENSP00000491584.2:p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgS...
ENST00000490131.5:c.2842_2880dup	ENSP00000418685.1:p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgS...
ENST00000498619.2:c.2872_2910dup	ENSP00000420194.1:p.Pro970_Arg971insLeuThrLeuProGlnGlnGlnArgS...
NM_000388.3:c.2842_2880dup	NP_000379.2:p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgSerGlnG...
NM_001178065.1:c.2872_2910dup	NP_001171536.1:p.Pro970_Arg971insLeuThrLeuProGlnGlnGlnArgSerG...
XM_005247836.2:c.2842_2880dup	XP_005247893.1:p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgSerG...
XM_005247837.2:c.2359_2397dup	XP_005247894.1:p.Pro799_Arg800insLeuThrLeuProGlnGlnGlnArgSerG...
XM_006713789.2:c.2842_2880dup	XP_006713852.1:p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgSerG...
XM_011513237.1:c.2842_2880dup	XP_011511539.1:p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgSerG...
XM_011513238.1:c.2842_2880dup	XP_011511540.1:p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgSerG...
XM_011513239.1:c.2254_2292dup	XP_011511541.1:p.Pro764_Arg765insLeuThrLeuProGlnGlnGlnArgSerG...
XM_006713789.3:c.2842_2880dup	XP_006713852.1:p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgSerG...
XM_017007324.1:c.2842_2880dup	XP_016862813.1:p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgSerG...
XM_017007325.1:c.2842_2880dup	XP_016862814.1:p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgSerG...
NM_000388.4:c.2842_2880dup MANE Select	NP_000379.3:p.Pro960_Arg961insLeuThrLeuProGlnGlnGlnArgSerGlnG...
NM_001178065.2:c.2872_2910dup	NP_001171536.2:p.Pro970_Arg971insLeuThrLeuProGlnGlnGlnArgSerG...