Canonical Allele Identifier: CA916082597

Gene: CASR

Linked Data

• ClinVar Variation Id: 858507
• ClinVar RCV Id: RCV001064392
• dbSNP Id: rs2074952162
• gnomAD v4: 3-122284995-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284998del , CM000665.2:g.122284998del	GRCh38
NC_000003.11:g.122003845del , CM000665.1:g.122003845del	GRCh37
NC_000003.10:g.123486535del	NCBI36
NG_009058.1:g.106316del
NG_009058.2:g.106331del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2813del	ENSP00000418685.2:p.Pro938ArgfsTer9
ENST00000498619.4:c.3074del	ENSP00000420194.1:p.Pro1025ArgfsTer9
ENST00000638421.1:c.3044del	ENSP00000492190.1:p.Pro1015ArgfsTer9
ENST00000639785.2:c.3044del MANE Select	ENSP00000491584.2:p.Pro1015ArgfsTer9
ENST00000490131.5:c.3044del	ENSP00000418685.1:p.Pro1015ArgfsTer9
ENST00000498619.2:c.3074del	ENSP00000420194.1:p.Pro1025ArgfsTer9
NM_000388.3:c.3044del	NP_000379.2:p.Pro1015ArgfsTer9
NM_001178065.1:c.3074del	NP_001171536.1:p.Pro1025ArgfsTer9
XM_005247836.2:c.3044del	XP_005247893.1:p.Pro1015ArgfsTer9
XM_005247837.2:c.2561del	XP_005247894.1:p.Pro854ArgfsTer9
XM_006713789.2:c.3044del	XP_006713852.1:p.Pro1015ArgfsTer9
XM_011513237.1:c.3044del	XP_011511539.1:p.Pro1015ArgfsTer9
XM_011513238.1:c.3044del	XP_011511540.1:p.Pro1015ArgfsTer9
XM_011513239.1:c.2456del	XP_011511541.1:p.Pro819ArgfsTer9
XM_006713789.3:c.3044del	XP_006713852.1:p.Pro1015ArgfsTer9
XM_017007324.1:c.3044del	XP_016862813.1:p.Pro1015ArgfsTer9
XM_017007325.1:c.3044del	XP_016862814.1:p.Pro1015ArgfsTer9
NM_000388.4:c.3044del MANE Select	NP_000379.3:p.Pro1015ArgfsTer9
NM_001178065.2:c.3074del	NP_001171536.2:p.Pro1025ArgfsTer9