Canonical Allele Identifier: CA2667224655

Gene: CASR

Linked Data

• gnomAD v4: 3-122284483-AGCCAGCTTTGGCTTGCTGGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284484_122284504del , CM000665.2:g.122284484_122284504del	GRCh38
NC_000003.11:g.122003331_122003351del , CM000665.1:g.122003331_122003351del	GRCh37
NC_000003.10:g.123486021_123486041del	NCBI36
NG_009058.1:g.105802_105822del
NG_009058.2:g.105817_105837del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2299_2319del	ENSP00000418685.2:p.Ala767_Ala773del
ENST00000498619.4:c.2560_2580del	ENSP00000420194.1:p.Ala854_Ala860del
ENST00000638421.1:c.2530_2550del	ENSP00000492190.1:p.Ala844_Ala850del
ENST00000639785.2:c.2530_2550del MANE Select	ENSP00000491584.2:p.Ala844_Ala850del
ENST00000490131.5:c.2530_2550del	ENSP00000418685.1:p.Ala844_Ala850del
ENST00000498619.2:c.2560_2580del	ENSP00000420194.1:p.Ala854_Ala860del
NM_000388.3:c.2530_2550del	NP_000379.2:p.Ala844_Ala850del
NM_001178065.1:c.2560_2580del	NP_001171536.1:p.Ala854_Ala860del
XM_005247836.2:c.2530_2550del	XP_005247893.1:p.Ala844_Ala850del
XM_005247837.2:c.2047_2067del	XP_005247894.1:p.Ala683_Ala689del
XM_006713789.2:c.2530_2550del	XP_006713852.1:p.Ala844_Ala850del
XM_011513237.1:c.2530_2550del	XP_011511539.1:p.Ala844_Ala850del
XM_011513238.1:c.2530_2550del	XP_011511540.1:p.Ala844_Ala850del
XM_011513239.1:c.1942_1962del	XP_011511541.1:p.Ala648_Ala654del
XM_006713789.3:c.2530_2550del	XP_006713852.1:p.Ala844_Ala850del
XM_017007324.1:c.2530_2550del	XP_016862813.1:p.Ala844_Ala850del
XM_017007325.1:c.2530_2550del	XP_016862814.1:p.Ala844_Ala850del
NM_000388.4:c.2530_2550del MANE Select	NP_000379.3:p.Ala844_Ala850del
NM_001178065.2:c.2560_2580del	NP_001171536.2:p.Ala854_Ala860del