Canonical Allele Identifier: CA340440

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 5636
• ClinVar RCV Id: RCV000005990 ; RCV000724161 ; RCV000662321
• dbSNP Id: rs80356708
• ExAC: 9:37424858 TG / T
• gnomAD v2: 9-37424858-TG-T
• gnomAD v3: 9-37424861-TG-T
• gnomAD v4: 9-37424861-TG-T
• MyVariant Identifiers: chr9:g.37424861del (hg19) ; chr9:g.37424859del (hg19) ; chr9:g.37424864del (hg38) ; chr9:g.37424863del (hg38) ; chr9:g.37424862del (hg38)
• PubMed: PMID:10484776 ; PMID:11030416 ; PMID:12185464 ; PMID:14635115 ; PMID:15327387 ; PMID:18560364 ; PMID:20301742 ; PMID:23891399 ; PMID:24116921

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424864del , CM000671.2:g.37424864del	GRCh38
NC_000009.11:g.37424861del , CM000671.1:g.37424861del	GRCh37
NC_000009.10:g.37414861del	NCBI36
NG_008135.1:g.7155del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.103del MANE Select	ENSP00000313432.6:p.Asp35ThrfsTer11
ENST00000318158.10:c.103del	ENSP00000313432.6:p.Asp35ThrfsTer11
ENST00000377824.8:n.140del
ENST00000460882.5:n.130del
ENST00000487399.5:n.112del
ENST00000491488.5:n.109+2031del
ENST00000493368.5:n.160del
ENST00000607784.1:c.103del	ENSP00000475569.1:p.Asp35ThrfsTer11
NM_012203.1:c.103del	NP_036335.1:p.Asp35ThrfsTer11
XM_005251631.1:c.83+2031del	XP_005251688.1:n.83+2031del
XM_011518073.1:c.-660del	XP_011516375.1:n.-660del
XR_929374.1:n.188del
XM_017015320.2:c.103del	XP_016870809.1:p.Asp35ThrfsTer11
XM_017015321.2:c.103del	XP_016870810.1:p.Asp35ThrfsTer11
XM_017015323.2:c.-660del	XP_016870812.1:n.-660del
XM_024447716.1:c.376del	XP_024303484.1:p.Asp126ThrfsTer11
XM_024447717.1:c.376del	XP_024303485.1:p.Asp126ThrfsTer11
XR_002956828.1:n.391del
XR_002956829.1:n.391del
XR_002956830.1:n.162del
XR_002956831.1:n.138+2031del
XR_002956832.1:n.162del
NM_012203.2:c.103del MANE Select	NP_036335.1:p.Asp35ThrfsTer11