Canonical Allele Identifier: CA82749310

Gene: CASR

Linked Data

• dbSNP Id: rs1018006491
• MyVariant Identifiers: chr3:g.122003650_122003651insCC (hg19) ; chr3:g.122284803_122284804insCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284805_122284806dup , CM000665.2:g.122284805_122284806dup	GRCh38
NC_000003.11:g.122003652_122003653dup , CM000665.1:g.122003652_122003653dup	GRCh37
NC_000003.10:g.123486342_123486343dup	NCBI36
NG_009058.1:g.106123_106124dup
NG_009058.2:g.106138_106139dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2620_2621dup	ENSP00000418685.2:p.Gln875HisfsTer27
ENST00000498619.4:c.2881_2882dup	ENSP00000420194.1:p.Gln962HisfsTer27
ENST00000638421.1:c.2851_2852dup	ENSP00000492190.1:p.Gln952HisfsTer27
ENST00000639785.2:c.2851_2852dup MANE Select	ENSP00000491584.2:p.Gln952HisfsTer27
ENST00000490131.5:c.2851_2852dup	ENSP00000418685.1:p.Gln952HisfsTer27
ENST00000498619.2:c.2881_2882dup	ENSP00000420194.1:p.Gln962HisfsTer27
NM_000388.3:c.2851_2852dup	NP_000379.2:p.Gln952HisfsTer27
NM_001178065.1:c.2881_2882dup	NP_001171536.1:p.Gln962HisfsTer27
XM_005247836.2:c.2851_2852dup	XP_005247893.1:p.Gln952HisfsTer27
XM_005247837.2:c.2368_2369dup	XP_005247894.1:p.Gln791HisfsTer27
XM_006713789.2:c.2851_2852dup	XP_006713852.1:p.Gln952HisfsTer27
XM_011513237.1:c.2851_2852dup	XP_011511539.1:p.Gln952HisfsTer27
XM_011513238.1:c.2851_2852dup	XP_011511540.1:p.Gln952HisfsTer27
XM_011513239.1:c.2263_2264dup	XP_011511541.1:p.Gln756HisfsTer27
XM_006713789.3:c.2851_2852dup	XP_006713852.1:p.Gln952HisfsTer27
XM_017007324.1:c.2851_2852dup	XP_016862813.1:p.Gln952HisfsTer27
XM_017007325.1:c.2851_2852dup	XP_016862814.1:p.Gln952HisfsTer27
NM_000388.4:c.2851_2852dup MANE Select	NP_000379.3:p.Gln952HisfsTer27
NM_001178065.2:c.2881_2882dup	NP_001171536.2:p.Gln962HisfsTer27