Canonical Allele Identifier: CA913157698
Gene: GRHPR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436745_37436747del , CM000671.2:g.37436745_37436747del GRCh38
NC_000009.11:g.37436742_37436744del , CM000671.1:g.37436742_37436744del GRCh37
NC_000009.10:g.37426742_37426744del NCBI36
NG_008135.1:g.19036_19038del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.950_952del MANE Select ENSP00000313432.6:p.Leu317del
ENST00000318158.10:c.950_952del ENSP00000313432.6:p.Leu317del
ENST00000460882.5:n.977_979del
ENST00000480596.5:n.1651_1653del
ENST00000494290.1:c.*52-136_*52-134del ENSP00000432021.1:n.*52-136_*52-134del
ENST00000497693.1:n.4518_4520del
NM_012203.1:c.950_952del NP_036335.1:p.Leu317del
XM_005251631.1:c.629_631del XP_005251688.1:p.Leu210del
XM_011518073.1:c.548_550del XP_011516375.1:p.Leu183del
XM_017015320.2:c.946-666_946-664del XP_016870809.1:n.946-666_946-664del
XM_017015321.2:c.866-666_866-664del XP_016870810.1:n.866-666_866-664del
XM_017015323.2:c.544-666_544-664del XP_016870812.1:n.544-666_544-664del
XM_024447716.1:c.1219-666_1219-664del XP_024303484.1:n.1219-666_1219-664del
XM_024447717.1:c.1139-666_1139-664del XP_024303485.1:n.1139-666_1139-664del
XR_002956828.1:n.1234-666_1234-664del
XR_002956829.1:n.1154-666_1154-664del
XR_002956830.1:n.2370_2372del
XR_002956831.1:n.2045_2047del
XR_002956832.1:n.1369_1371del
NM_012203.2:c.950_952del MANE Select NP_036335.1:p.Leu317del