Canonical Allele Identifier: CA2579340526
Gene: GRHPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424918del , CM000671.2:g.37424918del GRCh38
NC_000009.11:g.37424915del , CM000671.1:g.37424915del GRCh37
NC_000009.10:g.37414915del NCBI36
NG_008135.1:g.7209del

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.157del MANE Select ENSP00000313432.6:p.His53ThrfsTer?
ENST00000318158.10:c.157del ENSP00000313432.6:p.His53ThrfsTer?
ENST00000377824.8:n.194del
ENST00000460882.5:n.184del
ENST00000487399.5:n.166del
ENST00000491488.5:n.109+2085del
ENST00000493368.5:n.214del
ENST00000607784.1:c.157del ENSP00000475569.1:p.His53ThrfsTer?
NM_012203.1:c.157del NP_036335.1:p.His53ThrfsTer?
XM_005251631.1:c.83+2085del XP_005251688.1:n.83+2085del
XM_011518073.1:c.-606del XP_011516375.1:n.-606del
XR_929374.1:n.242del
XM_017015320.2:c.157del XP_016870809.1:p.His53ThrfsTer?
XM_017015321.2:c.157del XP_016870810.1:p.His53ThrfsTer?
XM_017015323.2:c.-606del XP_016870812.1:n.-606del
XM_024447716.1:c.430del XP_024303484.1:p.His144ThrfsTer?
XM_024447717.1:c.430del XP_024303485.1:p.His144ThrfsTer?
XR_002956828.1:n.445del
XR_002956829.1:n.445del
XR_002956830.1:n.216del
XR_002956831.1:n.138+2085del
XR_002956832.1:n.216del
NM_012203.2:c.157del MANE Select NP_036335.1:p.His53ThrfsTer?