Canonical Allele Identifier: CA2580616519

Gene: CASR

Linked Data

• ClinVar Variation Id: 2100731
• ClinVar RCV Id: RCV003025956
• gnomAD v4: 3-122284745-A-AAGCAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284752_122284757dup , CM000665.2:g.122284752_122284757dup	GRCh38
NC_000003.11:g.122003599_122003604dup , CM000665.1:g.122003599_122003604dup	GRCh37
NC_000003.10:g.123486289_123486294dup	NCBI36
NG_009058.1:g.106070_106075dup
NG_009058.2:g.106085_106090dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2567_2572dup	ENSP00000418685.2:p.Gln857_Pro858insGlnGln
ENST00000498619.4:c.2828_2833dup	ENSP00000420194.1:p.Gln944_Pro945insGlnGln
ENST00000638421.1:c.2798_2803dup	ENSP00000492190.1:p.Gln934_Pro935insGlnGln
ENST00000639785.2:c.2798_2803dup MANE Select	ENSP00000491584.2:p.Gln934_Pro935insGlnGln
ENST00000490131.5:c.2798_2803dup	ENSP00000418685.1:p.Gln934_Pro935insGlnGln
ENST00000498619.2:c.2828_2833dup	ENSP00000420194.1:p.Gln944_Pro945insGlnGln
NM_000388.3:c.2798_2803dup	NP_000379.2:p.Gln934_Pro935insGlnGln
NM_001178065.1:c.2828_2833dup	NP_001171536.1:p.Gln944_Pro945insGlnGln
XM_005247836.2:c.2798_2803dup	XP_005247893.1:p.Gln934_Pro935insGlnGln
XM_005247837.2:c.2315_2320dup	XP_005247894.1:p.Gln773_Pro774insGlnGln
XM_006713789.2:c.2798_2803dup	XP_006713852.1:p.Gln934_Pro935insGlnGln
XM_011513237.1:c.2798_2803dup	XP_011511539.1:p.Gln934_Pro935insGlnGln
XM_011513238.1:c.2798_2803dup	XP_011511540.1:p.Gln934_Pro935insGlnGln
XM_011513239.1:c.2210_2215dup	XP_011511541.1:p.Gln738_Pro739insGlnGln
XM_006713789.3:c.2798_2803dup	XP_006713852.1:p.Gln934_Pro935insGlnGln
XM_017007324.1:c.2798_2803dup	XP_016862813.1:p.Gln934_Pro935insGlnGln
XM_017007325.1:c.2798_2803dup	XP_016862814.1:p.Gln934_Pro935insGlnGln
NM_000388.4:c.2798_2803dup MANE Select	NP_000379.3:p.Gln934_Pro935insGlnGln
NM_001178065.2:c.2828_2833dup	NP_001171536.2:p.Gln944_Pro945insGlnGln