Canonical Allele Identifier: CA2695201566

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2664422
• ClinVar RCV Id: RCV003447382

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424833_37424840delinsTTT , CM000671.2:g.37424833_37424840delinsTTT	GRCh38
NC_000009.11:g.37424830_37424837delinsTTT , CM000671.1:g.37424830_37424837delinsTTT	GRCh37
NC_000009.10:g.37414830_37414837delinsTTT	NCBI36
NG_008135.1:g.7124_7131delinsTTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.84-12_84-5delinsTTT MANE Select	ENSP00000313432.6:n.84-12_84-5delinsTTT
ENST00000318158.10:c.84-12_84-5delinsTTT	ENSP00000313432.6:n.84-12_84-5delinsTTT
ENST00000377824.8:n.121-12_121-5delinsTTT
ENST00000460882.5:n.111-12_111-5delinsTTT
ENST00000487399.5:n.93-12_93-5delinsTTT
ENST00000491488.5:n.109+2000_109+2007delinsTTT
ENST00000493368.5:n.141-12_141-5delinsTTT
ENST00000607784.1:c.84-12_84-5delinsTTT	ENSP00000475569.1:n.84-12_84-5delinsTTT
NM_012203.1:c.84-12_84-5delinsTTT	NP_036335.1:n.84-12_84-5delinsTTT
XM_005251631.1:c.83+2000_83+2007delinsTTT	XP_005251688.1:n.83+2000_83+2007delinsTTT...
XM_011518073.1:c.-679-12_-679-5delinsTTT	XP_011516375.1:n.-679-12_-679-5delinsTTT
XR_929374.1:n.169-12_169-5delinsTTT
XM_017015320.2:c.84-12_84-5delinsTTT	XP_016870809.1:n.84-12_84-5delinsTTT
XM_017015321.2:c.84-12_84-5delinsTTT	XP_016870810.1:n.84-12_84-5delinsTTT
XM_017015323.2:c.-679-12_-679-5delinsTTT	XP_016870812.1:n.-679-12_-679-5delinsTTT
XM_024447716.1:c.357-12_357-5delinsTTT	XP_024303484.1:n.357-12_357-5delinsTTT
XM_024447717.1:c.357-12_357-5delinsTTT	XP_024303485.1:n.357-12_357-5delinsTTT
XR_002956828.1:n.372-12_372-5delinsTTT
XR_002956829.1:n.372-12_372-5delinsTTT
XR_002956830.1:n.143-12_143-5delinsTTT
XR_002956831.1:n.138+2000_138+2007delinsTTT
XR_002956832.1:n.143-12_143-5delinsTTT
NM_012203.2:c.84-12_84-5delinsTTT MANE Select	NP_036335.1:n.84-12_84-5delinsTTT