Canonical Allele Identifier: CA2695201567

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2675945
• ClinVar RCV Id: RCV003468298

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37424855_37424858dup , CM000671.2:g.37424855_37424858dup	GRCh38
NC_000009.11:g.37424852_37424855dup , CM000671.1:g.37424852_37424855dup	GRCh37
NC_000009.10:g.37414852_37414855dup	NCBI36
NG_008135.1:g.7146_7149dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000318158.11:c.94_97dup MANE Select	ENSP00000313432.6:p.Gln33ArgfsTer7
ENST00000318158.10:c.94_97dup	ENSP00000313432.6:p.Gln33ArgfsTer7
ENST00000377824.8:n.131_134dup
ENST00000460882.5:n.121_124dup
ENST00000487399.5:n.103_106dup
ENST00000491488.5:n.109+2022_109+2025dup
ENST00000493368.5:n.151_154dup
ENST00000607784.1:c.94_97dup	ENSP00000475569.1:p.Gln33ArgfsTer7
NM_012203.1:c.94_97dup	NP_036335.1:p.Gln33ArgfsTer7
XM_005251631.1:c.83+2022_83+2025dup	XP_005251688.1:n.83+2022_83+2025dup
XM_011518073.1:c.-669_-666dup	XP_011516375.1:n.-669_-666dup
XR_929374.1:n.179_182dup
XM_017015320.2:c.94_97dup	XP_016870809.1:p.Gln33ArgfsTer7
XM_017015321.2:c.94_97dup	XP_016870810.1:p.Gln33ArgfsTer7
XM_017015323.2:c.-669_-666dup	XP_016870812.1:n.-669_-666dup
XM_024447716.1:c.367_370dup	XP_024303484.1:p.Gln124ArgfsTer7
XM_024447717.1:c.367_370dup	XP_024303485.1:p.Gln124ArgfsTer7
XR_002956828.1:n.382_385dup
XR_002956829.1:n.382_385dup
XR_002956830.1:n.153_156dup
XR_002956831.1:n.138+2022_138+2025dup
XR_002956832.1:n.153_156dup
NM_012203.2:c.94_97dup MANE Select	NP_036335.1:p.Gln33ArgfsTer7