Canonical Allele Identifier: CA2739269207
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 2844295
ClinVar RCV Id: RCV003716774

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424868_37425000del , CM000671.2:g.37424868_37425000del GRCh38
NC_000009.11:g.37424865_37424997del , CM000671.1:g.37424865_37424997del GRCh37
NC_000009.10:g.37414865_37414997del NCBI36
NG_008135.1:g.7159_7291del

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.107_214+25del
ENST00000318158.10:c.107_214+25del
ENST00000377824.8:n.144_251+25del
ENST00000460882.5:n.134_241+25del
ENST00000487399.5:n.116_223+25del
ENST00000491488.5:n.109+2035_109+2167del
ENST00000493368.5:n.164_271+25del
ENST00000607784.1:c.107_214+25del
NM_012203.1:c.107_214+25del
XM_005251631.1:c.83+2035_83+2167del XP_005251688.1:n.83+2035_83+2167del
XM_011518073.1:c.-656_-549+25del
XR_929374.1:n.192_299+25del
XM_017015320.2:c.107_214+25del
XM_017015321.2:c.107_214+25del
XM_017015323.2:c.-656_-549+25del
XM_024447716.1:c.380_487+25del
XM_024447717.1:c.380_487+25del
XR_002956828.1:n.395_502+25del
XR_002956829.1:n.395_502+25del
XR_002956830.1:n.166_273+25del
XR_002956831.1:n.138+2035_138+2167del
XR_002956832.1:n.166_273+25del
NM_012203.2:c.107_214+25del