Canonical Allele Identifier: CA1846885800

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436745_37436747delinsTGA , CM000671.2:g.37436745_37436747delinsTGA	GRCh38
NC_000009.11:g.37436742_37436744delinsTGA , CM000671.1:g.37436742_37436744delinsTGA	GRCh37
NC_000009.10:g.37426742_37426744delinsTGA	NCBI36
NG_008135.1:g.19036_19038delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.950_952delinsTGA MANE Select	ENSP00000313432.6:p.Leu317=
ENST00000318158.10:c.950_952delinsTGA	ENSP00000313432.6:p.Leu317=
ENST00000460882.5:n.977_979delinsTGA
ENST00000480596.5:n.1651_1653delinsTGA
ENST00000494290.1:c.*52-136_*52-134delinsTGA	ENSP00000432021.1:n.*52-136_*52-134delinsTGA
ENST00000497693.1:n.4518_4520delinsTGA
NM_012203.1:c.950_952delinsTGA	NP_036335.1:p.Leu317=
XM_005251631.1:c.629_631delinsTGA	XP_005251688.1:p.Leu210=
XM_011518073.1:c.548_550delinsTGA	XP_011516375.1:p.Leu183=
XM_017015320.2:c.946-666_946-664delinsTGA	XP_016870809.1:n.946-666_946-664delinsTGA
XM_017015321.2:c.866-666_866-664delinsTGA	XP_016870810.1:n.866-666_866-664delinsTGA
XM_017015323.2:c.544-666_544-664delinsTGA	XP_016870812.1:n.544-666_544-664delinsTGA
XM_024447716.1:c.1219-666_1219-664delinsTGA	XP_024303484.1:n.1219-666_1219-664delinsTGA
XM_024447717.1:c.1139-666_1139-664delinsTGA	XP_024303485.1:n.1139-666_1139-664delinsTGA
XR_002956828.1:n.1234-666_1234-664delinsTGA
XR_002956829.1:n.1154-666_1154-664delinsTGA
XR_002956830.1:n.2370_2372delinsTGA
XR_002956831.1:n.2045_2047delinsTGA
XR_002956832.1:n.1369_1371delinsTGA
NM_012203.2:c.950_952delinsTGA MANE Select	NP_036335.1:p.Leu317=