Canonical Allele Identifier: CA658822479

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 556976
• ClinVar RCV Id: RCV000673051
• dbSNP Id: rs1554748598
• MyVariant Identifiers: chr9:g.37432136del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37432136del , CM000671.2:g.37432136del	GRCh38
NC_000009.11:g.37432133del , CM000671.1:g.37432133del	GRCh37
NC_000009.10:g.37422133del	NCBI36
NG_008135.1:g.14427del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.863del MANE Select	ENSP00000313432.6:p.Cys288LeufsTer2
ENST00000318158.10:c.863del	ENSP00000313432.6:p.Cys288LeufsTer2
ENST00000460882.5:n.890del
ENST00000480596.5:n.1564del
ENST00000482603.1:n.316del
ENST00000491488.5:n.568del
ENST00000494290.1:c.*51+985del	ENSP00000432021.1:n.*51+985del
ENST00000497693.1:n.4431del
ENST00000512404.2:n.50del
ENST00000607784.1:c.863del	ENSP00000475569.1:p.Cys288LeufsTer20
NM_012203.1:c.863del	NP_036335.1:p.Cys288LeufsTer2
XM_005251631.1:c.542del	XP_005251688.1:p.Cys181LeufsTer2
XM_011518073.1:c.461del	XP_011516375.1:p.Cys154LeufsTer2
XM_017015320.2:c.863del	XP_016870809.1:p.Cys288LeufsTer11
XM_017015321.2:c.863del	XP_016870810.1:p.Cys288LeufsTer25
XM_017015323.2:c.461del	XP_016870812.1:p.Cys154LeufsTer11
XM_024447716.1:c.1136del	XP_024303484.1:p.Cys379LeufsTer11
XM_024447717.1:c.1136del	XP_024303485.1:p.Cys379LeufsTer25
XR_002956828.1:n.1151del
XR_002956829.1:n.1151del
XR_002956830.1:n.2283del
XR_002956831.1:n.1958del
XR_002956832.1:n.1282del
NM_012203.2:c.863del MANE Select	NP_036335.1:p.Cys288LeufsTer2