Canonical Allele Identifier: CA2842625526

Gene: GRHPR

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436672del , CM000671.2:g.37436672del	GRCh38
NC_000009.11:g.37436669del , CM000671.1:g.37436669del	GRCh37
NC_000009.10:g.37426669del	NCBI36
NG_008135.1:g.18963del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.877del MANE Select	ENSP00000313432.6:p.His293ThrfsTer25
ENST00000318158.10:c.877del	ENSP00000313432.6:p.His293ThrfsTer25
ENST00000460882.5:n.904del
ENST00000480596.5:n.1578del
ENST00000491488.5:n.582del
ENST00000494290.1:c.*52-209del	ENSP00000432021.1:n.*52-209del
ENST00000497693.1:n.4445del
NM_012203.1:c.877del	NP_036335.1:p.His293ThrfsTer25
XM_005251631.1:c.556del	XP_005251688.1:p.His186ThrfsTer25
XM_011518073.1:c.475del	XP_011516375.1:p.His159ThrfsTer25
XM_017015320.2:c.946-739del	XP_016870809.1:n.946-739del
XM_017015321.2:c.866-739del	XP_016870810.1:n.866-739del
XM_017015323.2:c.544-739del	XP_016870812.1:n.544-739del
XM_024447716.1:c.1219-739del	XP_024303484.1:n.1219-739del
XM_024447717.1:c.1139-739del	XP_024303485.1:n.1139-739del
XR_002956828.1:n.1234-739del
XR_002956829.1:n.1154-739del
XR_002956830.1:n.2297del
XR_002956831.1:n.1972del
XR_002956832.1:n.1296del
NM_012203.2:c.877del MANE Select	NP_036335.1:p.His293ThrfsTer25