Canonical Allele Identifier: CA2689981330

Gene: GRHPR

Linked Data

• gnomAD v4: 9-37429804-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429805del , CM000671.2:g.37429805del	GRCh38
NC_000009.11:g.37429802del , CM000671.1:g.37429802del	GRCh37
NC_000009.10:g.37419802del	NCBI36
NG_008135.1:g.12096del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.567del MANE Select	ENSP00000313432.6:p.Glu190ArgfsTer29
ENST00000318158.10:c.567del	ENSP00000313432.6:p.Glu190ArgfsTer29
ENST00000377824.8:n.604del
ENST00000460882.5:n.594del
ENST00000480596.5:n.1268del
ENST00000482603.1:n.20del
ENST00000491488.5:n.272del
ENST00000494290.1:c.138del	ENSP00000432021.1:p.Glu47ArgfsTer29
ENST00000497693.1:n.2100del
ENST00000607784.1:c.567del	ENSP00000475569.1:p.Glu190ArgfsTer29
NM_012203.1:c.567del	NP_036335.1:p.Glu190ArgfsTer29
XM_005251631.1:c.246del	XP_005251688.1:p.Glu83ArgfsTer29
XM_011518073.1:c.165del	XP_011516375.1:p.Glu56ArgfsTer29
XR_929374.1:n.1012del
XM_017015320.2:c.567del	XP_016870809.1:p.Glu190ArgfsTer29
XM_017015321.2:c.567del	XP_016870810.1:p.Glu190ArgfsTer29
XM_017015323.2:c.165del	XP_016870812.1:p.Glu56ArgfsTer29
XM_024447716.1:c.840del	XP_024303484.1:p.Glu281ArgfsTer29
XM_024447717.1:c.840del	XP_024303485.1:p.Glu281ArgfsTer29
XR_002956828.1:n.855del
XR_002956829.1:n.855del
XR_002956830.1:n.626del
XR_002956831.1:n.301del
XR_002956832.1:n.986del
NM_012203.2:c.567del MANE Select	NP_036335.1:p.Glu190ArgfsTer29