Canonical Allele Identifier: CA5058935

Gene: GRHPR

Linked Data

• dbSNP Id: rs751101495
• ExAC: 9:37424907 C / CG
• gnomAD v4: 9-37424910-C-CG
• COSMIC: COSM1724536 ; COSM1724537
• MyVariant Identifiers: chr9:g.37424908_37424909insG (hg19) ; chr9:g.37424907_37424908insG (hg19) ; chr9:g.37424910_37424911insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424915dup , CM000671.2:g.37424915dup	GRCh38
NC_000009.11:g.37424912dup , CM000671.1:g.37424912dup	GRCh37
NC_000009.10:g.37414912dup	NCBI36
NG_008135.1:g.7206dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.154dup MANE Select	ENSP00000313432.6:p.Ala52GlyfsTer?
ENST00000318158.10:c.154dup	ENSP00000313432.6:p.Ala52GlyfsTer?
ENST00000377824.8:n.191dup
ENST00000460882.5:n.181dup
ENST00000487399.5:n.163dup
ENST00000491488.5:n.109+2082dup
ENST00000493368.5:n.211dup
ENST00000607784.1:c.154dup	ENSP00000475569.1:p.Ala52GlyfsTer?
NM_012203.1:c.154dup	NP_036335.1:p.Ala52GlyfsTer?
XM_005251631.1:c.83+2082dup	XP_005251688.1:n.83+2082dup
XM_011518073.1:c.-609dup	XP_011516375.1:n.-609dup
XR_929374.1:n.239dup
XM_017015320.2:c.154dup	XP_016870809.1:p.Ala52GlyfsTer?
XM_017015321.2:c.154dup	XP_016870810.1:p.Ala52GlyfsTer?
XM_017015323.2:c.-609dup	XP_016870812.1:n.-609dup
XM_024447716.1:c.427dup	XP_024303484.1:p.Ala143GlyfsTer?
XM_024447717.1:c.427dup	XP_024303485.1:p.Ala143GlyfsTer?
XR_002956828.1:n.442dup
XR_002956829.1:n.442dup
XR_002956830.1:n.213dup
XR_002956831.1:n.138+2082dup
XR_002956832.1:n.213dup
NM_012203.2:c.154dup MANE Select	NP_036335.1:p.Ala52GlyfsTer?