Canonical Allele Identifier: CA658822474

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 550345
• ClinVar RCV Id: RCV000665069
• dbSNP Id: rs1554747871
• MyVariant Identifiers: chr9:g.37429734del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429734del , CM000671.2:g.37429734del	GRCh38
NC_000009.11:g.37429731del , CM000671.1:g.37429731del	GRCh37
NC_000009.10:g.37419731del	NCBI36
NG_008135.1:g.12025del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.496del MANE Select	ENSP00000313432.6:p.Gln166ArgfsTer7
ENST00000318158.10:c.496del	ENSP00000313432.6:p.Gln166ArgfsTer7
ENST00000377824.8:n.533del
ENST00000460882.5:n.523del
ENST00000480596.5:n.1197del
ENST00000491488.5:n.201del
ENST00000494290.1:c.67del	ENSP00000432021.1:p.Gln23ArgfsTer7
ENST00000497693.1:n.2029del
ENST00000607784.1:c.496del	ENSP00000475569.1:p.Gln166ArgfsTer7
NM_012203.1:c.496del	NP_036335.1:p.Gln166ArgfsTer7
XM_005251631.1:c.175del	XP_005251688.1:p.Gln59ArgfsTer7
XM_011518073.1:c.94del	XP_011516375.1:p.Gln32ArgfsTer7
XR_929374.1:n.941del
XM_017015320.2:c.496del	XP_016870809.1:p.Gln166ArgfsTer7
XM_017015321.2:c.496del	XP_016870810.1:p.Gln166ArgfsTer7
XM_017015323.2:c.94del	XP_016870812.1:p.Gln32ArgfsTer7
XM_024447716.1:c.769del	XP_024303484.1:p.Gln257ArgfsTer7
XM_024447717.1:c.769del	XP_024303485.1:p.Gln257ArgfsTer7
XR_002956828.1:n.784del
XR_002956829.1:n.784del
XR_002956830.1:n.555del
XR_002956831.1:n.230del
XR_002956832.1:n.915del
NM_012203.2:c.496del MANE Select	NP_036335.1:p.Gln166ArgfsTer7