Canonical Allele Identifier: CA16041331
Gene: GRHPR HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370176
ClinVar RCV Id: RCV000409935
dbSNP Id: rs1057516292

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37429835del , CM000671.2:g.37429835del GRCh38
NC_000009.10:g.37419832del NCBI36
NC_000009.11:g.37429832del , CM000671.1:g.37429832del GRCh37
NG_008135.1:g.12126del

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.10:c.597del ENSP00000313432.6:p.Phe199LeufsTer20
ENST00000377824.8:n.634del
ENST00000460882.5:n.624del
ENST00000480596.5:n.1298del
ENST00000482603.1:n.50del
ENST00000491488.5:n.302del
ENST00000494290.1:c.168del ENSP00000432021.1:p.Phe56LeufsTer20
ENST00000497693.1:n.2130del
ENST00000607784.1:c.597del ENSP00000475569.1:p.Phe199LeufsTer20
NM_012203.1:c.597del VV NP_036335.1:p.Phe199LeufsTer20
XM_005251631.1:c.276del XP_005251688.1:p.Phe92LeufsTer20
XM_011518073.1:c.195del XP_011516375.1:p.Phe65LeufsTer20
XR_929374.1:n.1042del