Canonical Allele Identifier: CA273039
Gene: GRHPR HGNC NCBI

Linked Data

ClinVar Variation Id: 162021
ClinVar RCV Id: RCV000149442
dbSNP Id: rs672601351
MyVariant Identifiers: chr9:g.37425952_37425953del (hg19) chr9:g.37425955_37425956del (hg38)
PubMed: PMID:14635115 PMID:24116921
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.37425955_37425956del , CM000671.2:g.37425955_37425956del GRCh38
NC_000009.11:g.37425952_37425953del , CM000671.1:g.37425952_37425953del GRCh37
NC_000009.10:g.37415952_37415953del NCBI36
NG_008135.1:g.8246_8247del

Transcript Alleles

HGVS Amino-acid change
ENST00000318158.11:c.248_249del MANE Select ENSP00000313432.6:p.Val83GlyfsTer9
ENST00000318158.10:c.248_249del ENSP00000313432.6:p.Val83GlyfsTer9
ENST00000377824.8:n.285_286del
ENST00000460882.5:n.275_276del
ENST00000487399.5:n.257_258del
ENST00000491488.5:n.110-2529_110-2528del
ENST00000493368.5:n.305_306del
ENST00000607784.1:c.248_249del ENSP00000475569.1:p.Val83GlyfsTer9
NM_012203.1:c.248_249del NP_036335.1:p.Val83GlyfsTer9
XM_005251631.1:c.84-2529_84-2528del XP_005251688.1:n.84-2529_84-2528del
XM_011518073.1:c.-515_-514del XP_011516375.1:n.-515_-514del
XR_929374.1:n.333_334del
XM_017015320.2:c.248_249del XP_016870809.1:p.Val83GlyfsTer9
XM_017015321.2:c.248_249del XP_016870810.1:p.Val83GlyfsTer9
XM_017015323.2:c.-515_-514del XP_016870812.1:n.-515_-514del
XM_024447716.1:c.521_522del XP_024303484.1:p.Val174GlyfsTer9
XM_024447717.1:c.521_522del XP_024303485.1:p.Val174GlyfsTer9
XR_002956828.1:n.536_537del
XR_002956829.1:n.536_537del
XR_002956830.1:n.307_308del
XR_002956831.1:n.139-2529_139-2528del
XR_002956832.1:n.307_308del
NM_012203.2:c.248_249del MANE Select NP_036335.1:p.Val83GlyfsTer9
Search 100 bp 5'
Search 100 bp 3'