Canonical Allele Identifier: CA2580080521

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1726644
• ClinVar RCV Id: RCV002310328

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429770del , CM000671.2:g.37429770del	GRCh38
NC_000009.11:g.37429767del , CM000671.1:g.37429767del	GRCh37
NC_000009.10:g.37419767del	NCBI36
NG_008135.1:g.12061del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.532del MANE Select	ENSP00000313432.6:p.Gln178ArgfsTer?
ENST00000318158.10:c.532del	ENSP00000313432.6:p.Gln178ArgfsTer?
ENST00000377824.8:n.569del
ENST00000460882.5:n.559del
ENST00000480596.5:n.1233del
ENST00000491488.5:n.237del
ENST00000494290.1:c.103del	ENSP00000432021.1:p.Gln35ArgfsTer?
ENST00000497693.1:n.2065del
ENST00000607784.1:c.532del	ENSP00000475569.1:p.Gln178ArgfsTer?
NM_012203.1:c.532del	NP_036335.1:p.Gln178ArgfsTer?
XM_005251631.1:c.211del	XP_005251688.1:p.Gln71ArgfsTer?
XM_011518073.1:c.130del	XP_011516375.1:p.Gln44ArgfsTer?
XR_929374.1:n.977del
XM_017015320.2:c.532del	XP_016870809.1:p.Gln178ArgfsTer?
XM_017015321.2:c.532del	XP_016870810.1:p.Gln178ArgfsTer?
XM_017015323.2:c.130del	XP_016870812.1:p.Gln44ArgfsTer?
XM_024447716.1:c.805del	XP_024303484.1:p.Gln269ArgfsTer?
XM_024447717.1:c.805del	XP_024303485.1:p.Gln269ArgfsTer?
XR_002956828.1:n.820del
XR_002956829.1:n.820del
XR_002956830.1:n.591del
XR_002956831.1:n.266del
XR_002956832.1:n.951del
NM_012203.2:c.532del MANE Select	NP_036335.1:p.Gln178ArgfsTer?