Canonical Allele Identifier: CA2569872

Gene: CASR

Linked Data

• ClinVar Variation Id: 645047
• ClinVar RCV Id: RCV000799062 ; RCV004027980
• dbSNP Id: rs747740545
• ExAC: 3:122003625 G / GAGC
• gnomAD v2: 3-122003625-G-GAGC
• gnomAD v3: 3-122284778-G-GAGC
• gnomAD v4: 3-122284778-G-GAGC
• MyVariant Identifiers: chr3:g.122003628_122003629insAGC (hg19) ; chr3:g.122003625_122003626insAGC (hg19) ; chr3:g.122284781_122284782insAGC (hg38) ; chr3:g.122284778_122284779insAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284791_122284793dup , CM000665.2:g.122284791_122284793dup	GRCh38
NC_000003.11:g.122003638_122003640dup , CM000665.1:g.122003638_122003640dup	GRCh37
NC_000003.10:g.123486328_123486330dup	NCBI36
NG_009058.1:g.106109_106111dup
NG_009058.2:g.106124_106126dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2606_2608dup	ENSP00000418685.2:p.Gln869_Pro870insGln
ENST00000498619.4:c.2867_2869dup	ENSP00000420194.1:p.Gln956_Pro957insGln
ENST00000638421.1:c.2837_2839dup	ENSP00000492190.1:p.Gln946_Pro947insGln
ENST00000639785.2:c.2837_2839dup MANE Select	ENSP00000491584.2:p.Gln946_Pro947insGln
ENST00000490131.5:c.2837_2839dup	ENSP00000418685.1:p.Gln946_Pro947insGln
ENST00000498619.2:c.2867_2869dup	ENSP00000420194.1:p.Gln956_Pro957insGln
NM_000388.3:c.2837_2839dup	NP_000379.2:p.Gln946_Pro947insGln
NM_001178065.1:c.2867_2869dup	NP_001171536.1:p.Gln956_Pro957insGln
XM_005247836.2:c.2837_2839dup	XP_005247893.1:p.Gln946_Pro947insGln
XM_005247837.2:c.2354_2356dup	XP_005247894.1:p.Gln785_Pro786insGln
XM_006713789.2:c.2837_2839dup	XP_006713852.1:p.Gln946_Pro947insGln
XM_011513237.1:c.2837_2839dup	XP_011511539.1:p.Gln946_Pro947insGln
XM_011513238.1:c.2837_2839dup	XP_011511540.1:p.Gln946_Pro947insGln
XM_011513239.1:c.2249_2251dup	XP_011511541.1:p.Gln750_Pro751insGln
XM_006713789.3:c.2837_2839dup	XP_006713852.1:p.Gln946_Pro947insGln
XM_017007324.1:c.2837_2839dup	XP_016862813.1:p.Gln946_Pro947insGln
XM_017007325.1:c.2837_2839dup	XP_016862814.1:p.Gln946_Pro947insGln
NM_000388.4:c.2837_2839dup MANE Select	NP_000379.3:p.Gln946_Pro947insGln
NM_001178065.2:c.2867_2869dup	NP_001171536.2:p.Gln956_Pro957insGln