Canonical Allele Identifier: CA2580080552

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1725194
• ClinVar RCV Id: RCV002308253
• gnomAD v4: 9-37429822-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429824del , CM000671.2:g.37429824del	GRCh38
NC_000009.11:g.37429821del , CM000671.1:g.37429821del	GRCh37
NC_000009.10:g.37419821del	NCBI36
NG_008135.1:g.12115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.586del MANE Select	ENSP00000313432.6:p.Gln196ArgfsTer23
ENST00000318158.10:c.586del	ENSP00000313432.6:p.Gln196ArgfsTer23
ENST00000377824.8:n.623del
ENST00000460882.5:n.613del
ENST00000480596.5:n.1287del
ENST00000482603.1:n.39del
ENST00000491488.5:n.291del
ENST00000494290.1:c.157del	ENSP00000432021.1:p.Gln53ArgfsTer23
ENST00000497693.1:n.2119del
ENST00000607784.1:c.586del	ENSP00000475569.1:p.Gln196ArgfsTer23
NM_012203.1:c.586del	NP_036335.1:p.Gln196ArgfsTer23
XM_005251631.1:c.265del	XP_005251688.1:p.Gln89ArgfsTer23
XM_011518073.1:c.184del	XP_011516375.1:p.Gln62ArgfsTer23
XR_929374.1:n.1031del
XM_017015320.2:c.586del	XP_016870809.1:p.Gln196ArgfsTer23
XM_017015321.2:c.586del	XP_016870810.1:p.Gln196ArgfsTer23
XM_017015323.2:c.184del	XP_016870812.1:p.Gln62ArgfsTer23
XM_024447716.1:c.859del	XP_024303484.1:p.Gln287ArgfsTer23
XM_024447717.1:c.859del	XP_024303485.1:p.Gln287ArgfsTer23
XR_002956828.1:n.874del
XR_002956829.1:n.874del
XR_002956830.1:n.645del
XR_002956831.1:n.320del
XR_002956832.1:n.1005del
NM_012203.2:c.586del MANE Select	NP_036335.1:p.Gln196ArgfsTer23