Canonical Allele Identifier: CA275909
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 204249
ClinVar RCV Id: RCV000186456
dbSNP Id: rs180177308

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426625del , CM000671.2:g.37426625del GRCh38
NC_000009.11:g.37426622del , CM000671.1:g.37426622del GRCh37
NC_000009.10:g.37416622del NCBI36
NG_008135.1:g.8916del

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.375del MANE Select ENSP00000313432.6:p.Leu126CysfsTer8
ENST00000318158.10:c.375del ENSP00000313432.6:p.Leu126CysfsTer8
ENST00000377824.8:n.412del
ENST00000460882.5:n.402del
ENST00000487399.5:n.927del
ENST00000491488.5:n.110-1859del
ENST00000493368.5:n.432del
ENST00000607784.1:c.375del ENSP00000475569.1:p.Leu126CysfsTer8
NM_012203.1:c.375del NP_036335.1:p.Leu126CysfsTer8
XM_005251631.1:c.84-1859del XP_005251688.1:n.84-1859del
XM_011518073.1:c.-388del XP_011516375.1:n.-388del
XR_929374.1:n.460del
XM_017015320.2:c.375del XP_016870809.1:p.Leu126CysfsTer8
XM_017015321.2:c.375del XP_016870810.1:p.Leu126CysfsTer8
XM_017015323.2:c.-388del XP_016870812.1:n.-388del
XM_024447716.1:c.648del XP_024303484.1:p.Leu217CysfsTer8
XM_024447717.1:c.648del XP_024303485.1:p.Leu217CysfsTer8
XR_002956828.1:n.663del
XR_002956829.1:n.663del
XR_002956830.1:n.434del
XR_002956831.1:n.139-1859del
XR_002956832.1:n.434del
NM_012203.2:c.375del MANE Select NP_036335.1:p.Leu126CysfsTer8