Canonical Allele Identifier: CA16041323
Gene: GRHPR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371365
ClinVar RCV Id: RCV000411660
dbSNP Id: rs1057517216

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37424915del , CM000671.2:g.37424915del GRCh38
NC_000009.11:g.37424912del , CM000671.1:g.37424912del GRCh37
NC_000009.10:g.37414912del NCBI36
NG_008135.1:g.7206del

Transcript Alleles

HGVS Amino-acid change
NM_012203.1:c.154del VV NP_036335.1:p.Ala52ProfsTer?
XM_005251631.1:c.83+2082del XP_005251688.1:p.=
XM_011518073.1:c.-609del XP_011516375.1:p.=
XR_929374.1:n.239del
XM_017015320.2:c.154del XP_016870809.1:p.Ala52ProfsTer?
XM_017015321.2:c.154del XP_016870810.1:p.Ala52ProfsTer?
XM_017015323.2:c.-609del XP_016870812.1:p.=
XM_024447716.1:c.427del XP_024303484.1:p.Ala143ProfsTer?
XM_024447717.1:c.427del XP_024303485.1:p.Ala143ProfsTer?
XR_002956828.1:n.442del
XR_002956829.1:n.442del
XR_002956830.1:n.213del
XR_002956831.1:n.138+2082del
XR_002956832.1:n.213del
NM_012203.2:c.154del VV MANE Preferred NP_036335.1:p.Ala52ProfsTer?
ENST00000318158.10:c.154del ENSP00000313432.6:p.Ala52ProfsTer?
ENST00000377824.8:n.191del
ENST00000460882.5:n.181del
ENST00000487399.5:n.163del
ENST00000491488.5:n.109+2082del
ENST00000493368.5:n.211del
ENST00000607784.1:c.154del ENSP00000475569.1:p.Ala52ProfsTer?