Canonical Allele Identifier: CA1846874148
Gene: GRHPR HGNC NCBI

Linked Data

dbSNP Id: rs1823396364

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37432078del , CM000671.2:g.37432078del GRCh38
NC_000009.11:g.37432075del , CM000671.1:g.37432075del GRCh37
NC_000009.10:g.37422075del NCBI36
NG_008135.1:g.14369del

Transcript Alleles

HGVS Amino-acid Change
ENST00000318158.11:c.805del MANE Select ENSP00000313432.6:p.Asp269MetfsTer2
ENST00000318158.10:c.805del ENSP00000313432.6:p.Asp269MetfsTer2
ENST00000460882.5:n.832del
ENST00000480596.5:n.1506del
ENST00000482603.1:n.258del
ENST00000491488.5:n.510del
ENST00000494290.1:c.*51+927del ENSP00000432021.1:n.*51+927del
ENST00000497693.1:n.4373del
ENST00000607784.1:c.805del ENSP00000475569.1:p.Asp269MetfsTer2
NM_012203.1:c.805del NP_036335.1:p.Asp269MetfsTer2
XM_005251631.1:c.484del XP_005251688.1:p.Asp162MetfsTer2
XM_011518073.1:c.403del XP_011516375.1:p.Asp135MetfsTer2
XM_017015320.2:c.805del XP_016870809.1:p.Asp269MetfsTer2
XM_017015321.2:c.805del XP_016870810.1:p.Asp269MetfsTer2
XM_017015323.2:c.403del XP_016870812.1:p.Asp135MetfsTer2
XM_024447716.1:c.1078del XP_024303484.1:p.Asp360MetfsTer2
XM_024447717.1:c.1078del XP_024303485.1:p.Asp360MetfsTer2
XR_002956828.1:n.1093del
XR_002956829.1:n.1093del
XR_002956830.1:n.2225del
XR_002956831.1:n.1900del
XR_002956832.1:n.1224del
NM_012203.2:c.805del MANE Select NP_036335.1:p.Asp269MetfsTer2