Canonical Allele Identifier: CA1846870607

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37429828_37429830delinsCAG , CM000671.2:g.37429828_37429830delinsCAG	GRCh38
NC_000009.11:g.37429825_37429827delinsCAG , CM000671.1:g.37429825_37429827delinsCAG	GRCh37
NC_000009.10:g.37419825_37419827delinsCAG	NCBI36
NG_008135.1:g.12119_12121delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.590_592delinsCAG MANE Select	ENSP00000313432.6:p.Ala197=
ENST00000318158.10:c.590_592delinsCAG	ENSP00000313432.6:p.Ala197=
ENST00000377824.8:n.627_629delinsCAG
ENST00000460882.5:n.617_619delinsCAG
ENST00000480596.5:n.1291_1293delinsCAG
ENST00000482603.1:n.43_45delinsCAG
ENST00000491488.5:n.295_297delinsCAG
ENST00000494290.1:c.161_163delinsCAG	ENSP00000432021.1:p.Ala54=
ENST00000497693.1:n.2123_2125delinsCAG
ENST00000607784.1:c.590_592delinsCAG	ENSP00000475569.1:p.Ala197=
NM_012203.1:c.590_592delinsCAG	NP_036335.1:p.Ala197=
XM_005251631.1:c.269_271delinsCAG	XP_005251688.1:p.Ala90=
XM_011518073.1:c.188_190delinsCAG	XP_011516375.1:p.Ala63=
XR_929374.1:n.1035_1037delinsCAG
XM_017015320.2:c.590_592delinsCAG	XP_016870809.1:p.Ala197=
XM_017015321.2:c.590_592delinsCAG	XP_016870810.1:p.Ala197=
XM_017015323.2:c.188_190delinsCAG	XP_016870812.1:p.Ala63=
XM_024447716.1:c.863_865delinsCAG	XP_024303484.1:p.Ala288=
XM_024447717.1:c.863_865delinsCAG	XP_024303485.1:p.Ala288=
XR_002956828.1:n.878_880delinsCAG
XR_002956829.1:n.878_880delinsCAG
XR_002956830.1:n.649_651delinsCAG
XR_002956831.1:n.324_326delinsCAG
XR_002956832.1:n.1009_1011delinsCAG
NM_012203.2:c.590_592delinsCAG MANE Select	NP_036335.1:p.Ala197=