Canonical Allele Identifier: CA2667224941

Gene: CASR

Linked Data

• gnomAD v4: 3-122285132-CAGAGCTTTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122285133_122285142del , CM000665.2:g.122285133_122285142del	GRCh38
NC_000003.11:g.122003980_122003989del , CM000665.1:g.122003980_122003989del	GRCh37
NC_000003.10:g.123486670_123486679del	NCBI36
NG_009058.1:g.106451_106460del
NG_009058.2:g.106466_106475del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2948_2957del	ENSP00000418685.2:p.Gln983ProfsTer13
ENST00000498619.4:c.3209_3218del	ENSP00000420194.1:p.Gln1070ProfsTer13
ENST00000638421.1:c.3179_3188del	ENSP00000492190.1:p.Gln1060ProfsTer13
ENST00000639785.2:c.3179_3188del MANE Select	ENSP00000491584.2:p.Gln1060ProfsTer13
ENST00000490131.5:c.3179_3188del	ENSP00000418685.1:p.Gln1060ProfsTer13
ENST00000498619.2:c.3209_3218del	ENSP00000420194.1:p.Gln1070ProfsTer13
NM_000388.3:c.3179_3188del	NP_000379.2:p.Gln1060ProfsTer13
NM_001178065.1:c.3209_3218del	NP_001171536.1:p.Gln1070ProfsTer13
XM_005247836.2:c.3179_3188del	XP_005247893.1:p.Gln1060ProfsTer13
XM_005247837.2:c.2696_2705del	XP_005247894.1:p.Gln899ProfsTer13
XM_006713789.2:c.3179_3188del	XP_006713852.1:p.Gln1060ProfsTer13
XM_011513237.1:c.3179_3188del	XP_011511539.1:p.Gln1060ProfsTer13
XM_011513238.1:c.3179_3188del	XP_011511540.1:p.Gln1060ProfsTer13
XM_011513239.1:c.2591_2600del	XP_011511541.1:p.Gln864ProfsTer13
XM_006713789.3:c.3179_3188del	XP_006713852.1:p.Gln1060ProfsTer13
XM_017007324.1:c.3179_3188del	XP_016862813.1:p.Gln1060ProfsTer13
XM_017007325.1:c.3179_3188del	XP_016862814.1:p.Gln1060ProfsTer13
NM_000388.4:c.3179_3188del MANE Select	NP_000379.3:p.Gln1060ProfsTer13
NM_001178065.2:c.3209_3218del	NP_001171536.2:p.Gln1070ProfsTer13