Canonical Allele Identifier: CA918449506

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1069746
• ClinVar RCV Id: RCV001381707 ; RCV003469664
• dbSNP Id: rs1564300408
• gnomAD v4: 9-37429825-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429827del , CM000671.2:g.37429827del	GRCh38
NC_000009.11:g.37429824del , CM000671.1:g.37429824del	GRCh37
NC_000009.10:g.37419824del	NCBI36
NG_008135.1:g.12118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.589del MANE Select	ENSP00000313432.6:p.Ala197GlnfsTer22
ENST00000318158.10:c.589del	ENSP00000313432.6:p.Ala197GlnfsTer22
ENST00000377824.8:n.626del
ENST00000460882.5:n.616del
ENST00000480596.5:n.1290del
ENST00000482603.1:n.42del
ENST00000491488.5:n.294del
ENST00000494290.1:c.160del	ENSP00000432021.1:p.Ala54GlnfsTer22
ENST00000497693.1:n.2122del
ENST00000607784.1:c.589del	ENSP00000475569.1:p.Ala197GlnfsTer22
NM_012203.1:c.589del	NP_036335.1:p.Ala197GlnfsTer22
XM_005251631.1:c.268del	XP_005251688.1:p.Ala90GlnfsTer22
XM_011518073.1:c.187del	XP_011516375.1:p.Ala63GlnfsTer22
XR_929374.1:n.1034del
XM_017015320.2:c.589del	XP_016870809.1:p.Ala197GlnfsTer22
XM_017015321.2:c.589del	XP_016870810.1:p.Ala197GlnfsTer22
XM_017015323.2:c.187del	XP_016870812.1:p.Ala63GlnfsTer22
XM_024447716.1:c.862del	XP_024303484.1:p.Ala288GlnfsTer22
XM_024447717.1:c.862del	XP_024303485.1:p.Ala288GlnfsTer22
XR_002956828.1:n.877del
XR_002956829.1:n.877del
XR_002956830.1:n.648del
XR_002956831.1:n.323del
XR_002956832.1:n.1008del
NM_012203.2:c.589del MANE Select	NP_036335.1:p.Ala197GlnfsTer22