Canonical Allele Identifier: CA2579340797

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2061787
• ClinVar RCV Id: RCV002952943
• gnomAD v4: 9-37436710-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436711del , CM000671.2:g.37436711del	GRCh38
NC_000009.11:g.37436708del , CM000671.1:g.37436708del	GRCh37
NC_000009.10:g.37426708del	NCBI36
NG_008135.1:g.19002del

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.916del MANE Select	ENSP00000313432.6:p.Ser306ProfsTer12
ENST00000318158.10:c.916del	ENSP00000313432.6:p.Ser306ProfsTer12
ENST00000460882.5:n.943del
ENST00000480596.5:n.1617del
ENST00000494290.1:c.*52-170del	ENSP00000432021.1:n.*52-170del
ENST00000497693.1:n.4484del
NM_012203.1:c.916del	NP_036335.1:p.Ser306ProfsTer12
XM_005251631.1:c.595del	XP_005251688.1:p.Ser199ProfsTer12
XM_011518073.1:c.514del	XP_011516375.1:p.Ser172ProfsTer12
XM_017015320.2:c.946-700del	XP_016870809.1:n.946-700del
XM_017015321.2:c.866-700del	XP_016870810.1:n.866-700del
XM_017015323.2:c.544-700del	XP_016870812.1:n.544-700del
XM_024447716.1:c.1219-700del	XP_024303484.1:n.1219-700del
XM_024447717.1:c.1139-700del	XP_024303485.1:n.1139-700del
XR_002956828.1:n.1234-700del
XR_002956829.1:n.1154-700del
XR_002956830.1:n.2336del
XR_002956831.1:n.2011del
XR_002956832.1:n.1335del
NM_012203.2:c.916del MANE Select	NP_036335.1:p.Ser306ProfsTer12