Canonical Allele Identifier: CA340440
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 5636
dbSNP Id: rs80356708

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424864del , CM000671.2:g.37424864del GRCh38
NC_000009.11:g.37424861del , CM000671.1:g.37424861del GRCh37
NC_000009.10:g.37414861del NCBI36
NG_008135.1:g.7155del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.103del MANE Select ENSP00000313432.6:p.Asp35ThrfsTer11
ENST00000318158.10:c.103del ENSP00000313432.6:p.Asp35ThrfsTer11
ENST00000377824.8:n.140del
ENST00000460882.5:n.130del
ENST00000487399.5:n.112del
ENST00000491488.5:n.109+2031del
ENST00000493368.5:n.160del
ENST00000607784.1:c.103del ENSP00000475569.1:p.Asp35ThrfsTer11
NM_012203.1:c.103del NP_036335.1:p.Asp35ThrfsTer11
XM_005251631.1:c.83+2031del XP_005251688.1:n.83+2031del
XM_011518073.1:c.-660del XP_011516375.1:n.-660del
XR_929374.1:n.188del
XM_017015320.2:c.103del XP_016870809.1:p.Asp35ThrfsTer11
XM_017015321.2:c.103del XP_016870810.1:p.Asp35ThrfsTer11
XM_017015323.2:c.-660del XP_016870812.1:n.-660del
XM_024447716.1:c.376del XP_024303484.1:p.Asp126ThrfsTer11
XM_024447717.1:c.376del XP_024303485.1:p.Asp126ThrfsTer11
XR_002956828.1:n.391del
XR_002956829.1:n.391del
XR_002956830.1:n.162del
XR_002956831.1:n.138+2031del
XR_002956832.1:n.162del
NM_012203.2:c.103del MANE Select NP_036335.1:p.Asp35ThrfsTer11