Canonical Allele Identifier: CA2667224709

Gene: CASR

Linked Data

• gnomAD v4: 3-122284775-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122284777del , CM000665.2:g.122284777del	GRCh38
NC_000003.11:g.122003624del , CM000665.1:g.122003624del	GRCh37
NC_000003.10:g.123486314del	NCBI36
NG_009058.1:g.106095del
NG_009058.2:g.106110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.2592del	ENSP00000418685.2:p.Glu865SerfsTer7
ENST00000498619.4:c.2853del	ENSP00000420194.1:p.Glu952SerfsTer7
ENST00000638421.1:c.2823del	ENSP00000492190.1:p.Glu942SerfsTer7
ENST00000639785.2:c.2823del MANE Select	ENSP00000491584.2:p.Glu942SerfsTer7
ENST00000490131.5:c.2823del	ENSP00000418685.1:p.Glu942SerfsTer7
ENST00000498619.2:c.2853del	ENSP00000420194.1:p.Glu952SerfsTer7
NM_000388.3:c.2823del	NP_000379.2:p.Glu942SerfsTer7
NM_001178065.1:c.2853del	NP_001171536.1:p.Glu952SerfsTer7
XM_005247836.2:c.2823del	XP_005247893.1:p.Glu942SerfsTer7
XM_005247837.2:c.2340del	XP_005247894.1:p.Glu781SerfsTer7
XM_006713789.2:c.2823del	XP_006713852.1:p.Glu942SerfsTer7
XM_011513237.1:c.2823del	XP_011511539.1:p.Glu942SerfsTer7
XM_011513238.1:c.2823del	XP_011511540.1:p.Glu942SerfsTer7
XM_011513239.1:c.2235del	XP_011511541.1:p.Glu746SerfsTer7
XM_006713789.3:c.2823del	XP_006713852.1:p.Glu942SerfsTer7
XM_017007324.1:c.2823del	XP_016862813.1:p.Glu942SerfsTer7
XM_017007325.1:c.2823del	XP_016862814.1:p.Glu942SerfsTer7
NM_000388.4:c.2823del MANE Select	NP_000379.3:p.Glu942SerfsTer7
NM_001178065.2:c.2853del	NP_001171536.2:p.Glu952SerfsTer7