Canonical Allele Identifier: CA16041331

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 370176
• ClinVar RCV Id: RCV000409935
• dbSNP Id: rs1057516292
• MyVariant Identifiers: chr9:g.37429832del (hg19) ; chr9:g.37429835del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429835del , CM000671.2:g.37429835del	GRCh38
NC_000009.11:g.37429832del , CM000671.1:g.37429832del	GRCh37
NC_000009.10:g.37419832del	NCBI36
NG_008135.1:g.12126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.597del MANE Select	ENSP00000313432.6:p.Phe199LeufsTer20
ENST00000318158.10:c.597del	ENSP00000313432.6:p.Phe199LeufsTer20
ENST00000377824.8:n.634del
ENST00000460882.5:n.624del
ENST00000480596.5:n.1298del
ENST00000482603.1:n.50del
ENST00000491488.5:n.302del
ENST00000494290.1:c.168del	ENSP00000432021.1:p.Phe56LeufsTer20
ENST00000497693.1:n.2130del
ENST00000607784.1:c.597del	ENSP00000475569.1:p.Phe199LeufsTer20
NM_012203.1:c.597del	NP_036335.1:p.Phe199LeufsTer20
XM_005251631.1:c.276del	XP_005251688.1:p.Phe92LeufsTer20
XM_011518073.1:c.195del	XP_011516375.1:p.Phe65LeufsTer20
XR_929374.1:n.1042del
XM_017015320.2:c.597del	XP_016870809.1:p.Phe199LeufsTer20
XM_017015321.2:c.597del	XP_016870810.1:p.Phe199LeufsTer20
XM_017015323.2:c.195del	XP_016870812.1:p.Phe65LeufsTer20
XM_024447716.1:c.870del	XP_024303484.1:p.Phe290LeufsTer20
XM_024447717.1:c.870del	XP_024303485.1:p.Phe290LeufsTer20
XR_002956828.1:n.885del
XR_002956829.1:n.885del
XR_002956830.1:n.656del
XR_002956831.1:n.331del
XR_002956832.1:n.1016del
NM_012203.2:c.597del MANE Select	NP_036335.1:p.Phe199LeufsTer20