Canonical Allele Identifier: CA1846874367
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 2675947
ClinVar RCV Id: RCV003468300
dbSNP Id: rs1823400914

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432139del , CM000671.2:g.37432139del GRCh38
NC_000009.11:g.37432136del , CM000671.1:g.37432136del GRCh37
NC_000009.10:g.37422136del NCBI36
NG_008135.1:g.14430del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.865+1del
ENST00000318158.10:c.865+1del
ENST00000460882.5:n.892+1del
ENST00000480596.5:n.1566+1del
ENST00000482603.1:n.318+1del
ENST00000491488.5:n.570+1del
ENST00000494290.1:c.*51+988del ENSP00000432021.1:n.*51+988del
ENST00000497693.1:n.4433+1del
ENST00000512404.2:n.53del
ENST00000607784.1:c.865+1del
NM_012203.1:c.865+1del
XM_005251631.1:c.544+1del
XM_011518073.1:c.463+1del
XM_017015320.2:c.865+1del
XM_017015321.2:c.865+1del
XM_017015323.2:c.463+1del
XM_024447716.1:c.1138+1del
XM_024447717.1:c.1138+1del
XR_002956828.1:n.1153+1del
XR_002956829.1:n.1153+1del
XR_002956830.1:n.2285+1del
XR_002956831.1:n.1960+1del
XR_002956832.1:n.1284+1del
NM_012203.2:c.865+1del