Allele Registry

Canonical Allele Identifier: CA213603

Gene: CASR HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr3:g.122261589del

GRCh37 chr3:g.121980436del

Linked Data - Sequence & Population

gnomAD v4:

chr3-122261588-CG-C

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000029453

RCV002472936

RCV002513240

ClinVar Variation:

35801

dbSNP:

193922442

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.122261589del , CM000665.2:g.122261589del	GRCh38
NC_000003.11:g.121980436del , CM000665.1:g.121980436del	GRCh37
NC_000003.10:g.123463126del	NCBI36
NG_009058.1:g.82907del
NG_009058.2:g.82922del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000490131.7:c.554del	ENSP00000418685.2:p.Arg185GlnfsTer?
ENST00000498619.4:c.554del	ENSP00000420194.1:p.Arg185GlnfsTer?
ENST00000638421.1:c.554del	ENSP00000492190.1:p.Arg185GlnfsTer?
ENST00000639785.2:c.554del MANE Select	ENSP00000491584.2:p.Arg185GlnfsTer?
ENST00000490131.5:c.554del	ENSP00000418685.1:p.Arg185GlnfsTer?
ENST00000498619.2:c.554del	ENSP00000420194.1:p.Arg185GlnfsTer?
NM_000388.3:c.554del	NP_000379.2:p.Arg185GlnfsTer?
NM_001178065.1:c.554del	NP_001171536.1:p.Arg185GlnfsTer?
XM_005247836.2:c.554del	XP_005247893.1:p.Arg185GlnfsTer?
XM_005247837.2:c.71del	XP_005247894.1:p.Arg24GlnfsTer?
XM_006713789.2:c.554del	XP_006713852.1:p.Arg185GlnfsTer?
XM_011513237.1:c.554del	XP_011511539.1:p.Arg185GlnfsTer?
XM_011513238.1:c.554del	XP_011511540.1:p.Arg185GlnfsTer?
XM_011513239.1:c.-35del	XP_011511541.1:n.-35del
XM_006713789.3:c.554del	XP_006713852.1:p.Arg185GlnfsTer?
XM_017007324.1:c.554del	XP_016862813.1:p.Arg185GlnfsTer?
XM_017007325.1:c.554del	XP_016862814.1:p.Arg185GlnfsTer?
NM_000388.4:c.554del MANE Select	NP_000379.3:p.Arg185GlnfsTer?
NM_001178065.2:c.554del	NP_001171536.2:p.Arg185GlnfsTer?

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