Canonical Allele Identifier: CA2695201568

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2664098
• ClinVar RCV Id: RCV003445244

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424870_37424879delinsCAC , CM000671.2:g.37424870_37424879delinsCAC	GRCh38
NC_000009.11:g.37424867_37424876delinsCAC , CM000671.1:g.37424867_37424876delinsCAC	GRCh37
NC_000009.10:g.37414867_37414876delinsCAC	NCBI36
NG_008135.1:g.7161_7170delinsCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.109_118delinsCAC MANE Select	ENSP00000313432.6:p.Asp37HisfsTer7
ENST00000318158.10:c.109_118delinsCAC	ENSP00000313432.6:p.Asp37HisfsTer7
ENST00000377824.8:n.146_155delinsCAC
ENST00000460882.5:n.136_145delinsCAC
ENST00000487399.5:n.118_127delinsCAC
ENST00000491488.5:n.109+2037_109+2046delinsCAC
ENST00000493368.5:n.166_175delinsCAC
ENST00000607784.1:c.109_118delinsCAC	ENSP00000475569.1:p.Asp37HisfsTer7
NM_012203.1:c.109_118delinsCAC	NP_036335.1:p.Asp37HisfsTer7
XM_005251631.1:c.83+2037_83+2046delinsCAC	XP_005251688.1:n.83+2037_83+2046delinsCAC
XM_011518073.1:c.-654_-645delinsCAC	XP_011516375.1:n.-654_-645delinsCAC
XR_929374.1:n.194_203delinsCAC
XM_017015320.2:c.109_118delinsCAC	XP_016870809.1:p.Asp37HisfsTer7
XM_017015321.2:c.109_118delinsCAC	XP_016870810.1:p.Asp37HisfsTer7
XM_017015323.2:c.-654_-645delinsCAC	XP_016870812.1:n.-654_-645delinsCAC
XM_024447716.1:c.382_391delinsCAC	XP_024303484.1:p.Asp128HisfsTer7
XM_024447717.1:c.382_391delinsCAC	XP_024303485.1:p.Asp128HisfsTer7
XR_002956828.1:n.397_406delinsCAC
XR_002956829.1:n.397_406delinsCAC
XR_002956830.1:n.168_177delinsCAC
XR_002956831.1:n.138+2037_138+2046delinsCAC
XR_002956832.1:n.168_177delinsCAC
NM_012203.2:c.109_118delinsCAC MANE Select	NP_036335.1:p.Asp37HisfsTer7