Canonical Allele Identifier: CA82748855

Gene: CASR

Linked Data

• MyVariant Identifiers: chr3:g.122003043_122003044insG (hg19) ; chr3:g.122284196_122284197insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284196_122284197insG , CM000665.2:g.122284196_122284197insG	GRCh38
NC_000003.11:g.122003043_122003044insG , CM000665.1:g.122003043_122003044insG	GRCh37
NC_000003.10:g.123485733_123485734insG	NCBI36
NG_009058.1:g.105514_105515insG
NG_009058.2:g.105529_105530insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2011_2012insG	ENSP00000418685.2:p.Pro671ArgfsTer12
ENST00000498619.4:c.2272_2273insG	ENSP00000420194.1:p.Pro758ArgfsTer12
ENST00000638421.1:c.2242_2243insG	ENSP00000492190.1:p.Pro748ArgfsTer12
ENST00000639785.2:c.2242_2243insG MANE Select	ENSP00000491584.2:p.Pro748ArgfsTer12
ENST00000490131.5:c.2242_2243insG	ENSP00000418685.1:p.Pro748ArgfsTer12
ENST00000498619.2:c.2272_2273insG	ENSP00000420194.1:p.Pro758ArgfsTer12
NM_000388.3:c.2242_2243insG	NP_000379.2:p.Pro748ArgfsTer12
NM_001178065.1:c.2272_2273insG	NP_001171536.1:p.Pro758ArgfsTer12
XM_005247836.2:c.2242_2243insG	XP_005247893.1:p.Pro748ArgfsTer12
XM_005247837.2:c.1759_1760insG	XP_005247894.1:p.Pro587ArgfsTer12
XM_006713789.2:c.2242_2243insG	XP_006713852.1:p.Pro748ArgfsTer12
XM_011513237.1:c.2242_2243insG	XP_011511539.1:p.Pro748ArgfsTer12
XM_011513238.1:c.2242_2243insG	XP_011511540.1:p.Pro748ArgfsTer12
XM_011513239.1:c.1654_1655insG	XP_011511541.1:p.Pro552ArgfsTer12
XM_006713789.3:c.2242_2243insG	XP_006713852.1:p.Pro748ArgfsTer12
XM_017007324.1:c.2242_2243insG	XP_016862813.1:p.Pro748ArgfsTer12
XM_017007325.1:c.2242_2243insG	XP_016862814.1:p.Pro748ArgfsTer12
NM_000388.4:c.2242_2243insG MANE Select	NP_000379.3:p.Pro748ArgfsTer12
NM_001178065.2:c.2272_2273insG	NP_001171536.2:p.Pro758ArgfsTer12