Canonical Allele Identifier: CA2580080519

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 1725382
• ClinVar RCV Id: RCV002309066

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429737_37429738insAGAGT , CM000671.2:g.37429737_37429738insAGAGT	GRCh38
NC_000009.11:g.37429734_37429735insAGAGT , CM000671.1:g.37429734_37429735insAGAGT	GRCh37
NC_000009.10:g.37419734_37419735insAGAGT	NCBI36
NG_008135.1:g.12028_12029insAGAGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.499_500insAGAGT MANE Select	ENSP00000313432.6:p.Ala167GlufsTer8
ENST00000318158.10:c.499_500insAGAGT	ENSP00000313432.6:p.Ala167GlufsTer8
ENST00000377824.8:n.536_537insAGAGT
ENST00000460882.5:n.526_527insAGAGT
ENST00000480596.5:n.1200_1201insAGAGT
ENST00000491488.5:n.204_205insAGAGT
ENST00000494290.1:c.70_71insAGAGT	ENSP00000432021.1:p.Ala24GlufsTer8
ENST00000497693.1:n.2032_2033insAGAGT
ENST00000607784.1:c.499_500insAGAGT	ENSP00000475569.1:p.Ala167GlufsTer8
NM_012203.1:c.499_500insAGAGT	NP_036335.1:p.Ala167GlufsTer8
XM_005251631.1:c.178_179insAGAGT	XP_005251688.1:p.Ala60GlufsTer8
XM_011518073.1:c.97_98insAGAGT	XP_011516375.1:p.Ala33GlufsTer8
XR_929374.1:n.944_945insAGAGT
XM_017015320.2:c.499_500insAGAGT	XP_016870809.1:p.Ala167GlufsTer8
XM_017015321.2:c.499_500insAGAGT	XP_016870810.1:p.Ala167GlufsTer8
XM_017015323.2:c.97_98insAGAGT	XP_016870812.1:p.Ala33GlufsTer8
XM_024447716.1:c.772_773insAGAGT	XP_024303484.1:p.Ala258GlufsTer8
XM_024447717.1:c.772_773insAGAGT	XP_024303485.1:p.Ala258GlufsTer8
XR_002956828.1:n.787_788insAGAGT
XR_002956829.1:n.787_788insAGAGT
XR_002956830.1:n.558_559insAGAGT
XR_002956831.1:n.233_234insAGAGT
XR_002956832.1:n.918_919insAGAGT
NM_012203.2:c.499_500insAGAGT MANE Select	NP_036335.1:p.Ala167GlufsTer8