Canonical Allele Identifier: CA2579340571
Gene: GRHPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37425996_37425997del , CM000671.2:g.37425996_37425997del GRCh38
NC_000009.11:g.37425993_37425994del , CM000671.1:g.37425993_37425994del GRCh37
NC_000009.10:g.37415993_37415994del NCBI36
NG_008135.1:g.8287_8288del

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.287+2_287+3del MANE Select ENSP00000313432.6:n.287+2_287+3del
ENST00000318158.10:c.287+2_287+3del ENSP00000313432.6:n.287+2_287+3del
ENST00000377824.8:n.324+2_324+3del
ENST00000460882.5:n.314+2_314+3del
ENST00000487399.5:n.298_299del
ENST00000491488.5:n.110-2488_110-2487del
ENST00000493368.5:n.344+2_344+3del
ENST00000607784.1:c.287+2_287+3del ENSP00000475569.1:n.287+2_287+3del
NM_012203.1:c.287+2_287+3del NP_036335.1:n.287+2_287+3del
XM_005251631.1:c.84-2488_84-2487del XP_005251688.1:n.84-2488_84-2487del
XM_011518073.1:c.-476+2_-476+3del XP_011516375.1:n.-476+2_-476+3del
XR_929374.1:n.372+2_372+3del
XM_017015320.2:c.287+2_287+3del XP_016870809.1:n.287+2_287+3del
XM_017015321.2:c.287+2_287+3del XP_016870810.1:n.287+2_287+3del
XM_017015323.2:c.-476+2_-476+3del XP_016870812.1:n.-476+2_-476+3del
XM_024447716.1:c.560+2_560+3del XP_024303484.1:n.560+2_560+3del
XM_024447717.1:c.560+2_560+3del XP_024303485.1:n.560+2_560+3del
XR_002956828.1:n.575+2_575+3del
XR_002956829.1:n.575+2_575+3del
XR_002956830.1:n.346+2_346+3del
XR_002956831.1:n.139-2488_139-2487del
XR_002956832.1:n.346+2_346+3del
NM_012203.2:c.287+2_287+3del MANE Select NP_036335.1:n.287+2_287+3del