Canonical Allele Identifier: CA2569905213
Gene: GRHPR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432233_37432237del , CM000671.2:g.37432233_37432237del GRCh38
NC_000009.11:g.37432230_37432234del , CM000671.1:g.37432230_37432234del GRCh37
NC_000009.10:g.37422230_37422234del NCBI36
NG_008135.1:g.14524_14528del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.865+95_865+99del MANE Select ENSP00000313432.6:n.865+95_865+99del
ENST00000318158.10:c.865+95_865+99del ENSP00000313432.6:n.865+95_865+99del
ENST00000460882.5:n.892+95_892+99del
ENST00000480596.5:n.1566+95_1566+99del
ENST00000482603.1:n.318+95_318+99del
ENST00000491488.5:n.570+95_570+99del
ENST00000494290.1:c.*51+1082_*51+1086del ENSP00000432021.1:n.*51+1082_*51+1086del
ENST00000497693.1:n.4433+95_4433+99del
ENST00000512404.2:n.147_151del
ENST00000607784.1:c.865+95_865+99del ENSP00000475569.1:n.865+95_865+99del
NM_012203.1:c.865+95_865+99del NP_036335.1:n.865+95_865+99del
XM_005251631.1:c.544+95_544+99del XP_005251688.1:n.544+95_544+99del
XM_011518073.1:c.463+95_463+99del XP_011516375.1:n.463+95_463+99del
XM_017015320.2:c.865+95_865+99del XP_016870809.1:n.865+95_865+99del
XM_017015321.2:c.865+95_865+99del XP_016870810.1:n.865+95_865+99del
XM_017015323.2:c.463+95_463+99del XP_016870812.1:n.463+95_463+99del
XM_024447716.1:c.1138+95_1138+99del XP_024303484.1:n.1138+95_1138+99del
XM_024447717.1:c.1138+95_1138+99del XP_024303485.1:n.1138+95_1138+99del
XR_002956828.1:n.1153+95_1153+99del
XR_002956829.1:n.1153+95_1153+99del
XR_002956830.1:n.2285+95_2285+99del
XR_002956831.1:n.1960+95_1960+99del
XR_002956832.1:n.1284+95_1284+99del
NM_012203.2:c.865+95_865+99del MANE Select NP_036335.1:n.865+95_865+99del