Canonical Allele Identifier: CA915947009

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 645622
• ClinVar RCV Id: RCV000799744 ; RCV002507383
• dbSNP Id: rs1588757756

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429831_37429832del , CM000671.2:g.37429831_37429832del	GRCh38
NC_000009.11:g.37429828_37429829del , CM000671.1:g.37429828_37429829del	GRCh37
NC_000009.10:g.37419828_37419829del	NCBI36
NG_008135.1:g.12122_12123del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.593_594del MANE Select	ENSP00000313432.6:p.Glu198ValfsTer6
ENST00000318158.10:c.593_594del	ENSP00000313432.6:p.Glu198ValfsTer6
ENST00000377824.8:n.630_631del
ENST00000460882.5:n.620_621del
ENST00000480596.5:n.1294_1295del
ENST00000482603.1:n.46_47del
ENST00000491488.5:n.298_299del
ENST00000494290.1:c.164_165del	ENSP00000432021.1:p.Glu55ValfsTer6
ENST00000497693.1:n.2126_2127del
ENST00000607784.1:c.593_594del	ENSP00000475569.1:p.Glu198ValfsTer6
NM_012203.1:c.593_594del	NP_036335.1:p.Glu198ValfsTer6
XM_005251631.1:c.272_273del	XP_005251688.1:p.Glu91ValfsTer6
XM_011518073.1:c.191_192del	XP_011516375.1:p.Glu64ValfsTer6
XR_929374.1:n.1038_1039del
XM_017015320.2:c.593_594del	XP_016870809.1:p.Glu198ValfsTer6
XM_017015321.2:c.593_594del	XP_016870810.1:p.Glu198ValfsTer6
XM_017015323.2:c.191_192del	XP_016870812.1:p.Glu64ValfsTer6
XM_024447716.1:c.866_867del	XP_024303484.1:p.Glu289ValfsTer6
XM_024447717.1:c.866_867del	XP_024303485.1:p.Glu289ValfsTer6
XR_002956828.1:n.881_882del
XR_002956829.1:n.881_882del
XR_002956830.1:n.652_653del
XR_002956831.1:n.327_328del
XR_002956832.1:n.1012_1013del
NM_012203.2:c.593_594del MANE Select	NP_036335.1:p.Glu198ValfsTer6