Canonical Allele Identifier: CA16041333
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 370871
ClinVar RCV Id: RCV000409992
dbSNP Id: rs1057516831

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37436749del , CM000671.2:g.37436749del GRCh38
NC_000009.11:g.37436746del , CM000671.1:g.37436746del GRCh37
NC_000009.10:g.37426746del NCBI36
NG_008135.1:g.19040del

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.954del MANE Select ENSP00000313432.6:p.Glu320SerfsTer?
ENST00000318158.10:c.954del ENSP00000313432.6:p.Glu320SerfsTer?
ENST00000460882.5:n.981del
ENST00000480596.5:n.1655del
ENST00000494290.1:c.*52-132del ENSP00000432021.1:n.*52-132del
ENST00000497693.1:n.4522del
NM_012203.1:c.954del NP_036335.1:p.Glu320SerfsTer?
XM_005251631.1:c.633del XP_005251688.1:p.Glu213SerfsTer?
XM_011518073.1:c.552del XP_011516375.1:p.Glu186SerfsTer?
XM_017015320.2:c.946-662del XP_016870809.1:n.946-662del
XM_017015321.2:c.866-662del XP_016870810.1:n.866-662del
XM_017015323.2:c.544-662del XP_016870812.1:n.544-662del
XM_024447716.1:c.1219-662del XP_024303484.1:n.1219-662del
XM_024447717.1:c.1139-662del XP_024303485.1:n.1139-662del
XR_002956828.1:n.1234-662del
XR_002956829.1:n.1154-662del
XR_002956830.1:n.2374del
XR_002956831.1:n.2049del
XR_002956832.1:n.1373del
NM_012203.2:c.954del MANE Select NP_036335.1:p.Glu320SerfsTer?