Canonical Allele Identifier: CA16041327
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 370187
ClinVar RCV Id: RCV000410867
dbSNP Id: rs1057516299
MyVariant Identifiers: chr9:g.37426651del (hg19) chr9:g.37426654del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37426654del , CM000671.2:g.37426654del GRCh38
NC_000009.11:g.37426651del , CM000671.1:g.37426651del GRCh37
NC_000009.10:g.37416651del NCBI36
NG_008135.1:g.8945del

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.404del MANE Select ENSP00000313432.6:p.Asn135MetfsTer30
ENST00000318158.10:c.404del ENSP00000313432.6:p.Asn135MetfsTer30
ENST00000377824.8:n.441del
ENST00000460882.5:n.431del
ENST00000491488.5:n.110-1830del
ENST00000493368.5:n.461del
ENST00000607784.1:c.404del ENSP00000475569.1:p.Asn135MetfsTer30
NM_012203.1:c.404del NP_036335.1:p.Asn135MetfsTer30
XM_005251631.1:c.84-1830del XP_005251688.1:n.84-1830del
XM_011518073.1:c.-359del XP_011516375.1:n.-359del
XR_929374.1:n.489del
XM_017015320.2:c.404del XP_016870809.1:p.Asn135MetfsTer30
XM_017015321.2:c.404del XP_016870810.1:p.Asn135MetfsTer30
XM_017015323.2:c.-359del XP_016870812.1:n.-359del
XM_024447716.1:c.677del XP_024303484.1:p.Asn226MetfsTer30
XM_024447717.1:c.677del XP_024303485.1:p.Asn226MetfsTer30
XR_002956828.1:n.692del
XR_002956829.1:n.692del
XR_002956830.1:n.463del
XR_002956831.1:n.139-1830del
XR_002956832.1:n.463del
NM_012203.2:c.404del MANE Select NP_036335.1:p.Asn135MetfsTer30
Search 100 bp 5'
Search 100 bp 3'