Canonical Allele Identifier: CA2689984589

Gene: GRHPR

Linked Data

• ClinVar Variation Id: 2912852
• ClinVar RCV Id: RCV003727565
• gnomAD v4: 9-37436644-C-CTT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.37436645_37436646insTT , CM000671.2:g.37436645_37436646insTT	GRCh38
NC_000009.11:g.37436642_37436643insTT , CM000671.1:g.37436642_37436643insTT	GRCh37
NC_000009.10:g.37426642_37426643insTT	NCBI36
NG_008135.1:g.18936_18937insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318158.11:c.866-16_866-15insTT MANE Select	ENSP00000313432.6:n.866-16_866-15insTT
ENST00000318158.10:c.866-16_866-15insTT	ENSP00000313432.6:n.866-16_866-15insTT
ENST00000460882.5:n.893-16_893-15insTT
ENST00000480596.5:n.1567-16_1567-15insTT
ENST00000491488.5:n.571-16_571-15insTT
ENST00000494290.1:c.*52-236_*52-235insTT	ENSP00000432021.1:n.*52-236_*52-235insTT
ENST00000497693.1:n.4434-16_4434-15insTT
NM_012203.1:c.866-16_866-15insTT	NP_036335.1:n.866-16_866-15insTT
XM_005251631.1:c.545-16_545-15insTT	XP_005251688.1:n.545-16_545-15insTT
XM_011518073.1:c.464-16_464-15insTT	XP_011516375.1:n.464-16_464-15insTT
XM_017015320.2:c.946-766_946-765insTT	XP_016870809.1:n.946-766_946-765insTT
XM_017015321.2:c.866-766_866-765insTT	XP_016870810.1:n.866-766_866-765insTT
XM_017015323.2:c.544-766_544-765insTT	XP_016870812.1:n.544-766_544-765insTT
XM_024447716.1:c.1219-766_1219-765insTT	XP_024303484.1:n.1219-766_1219-765insTT
XM_024447717.1:c.1139-766_1139-765insTT	XP_024303485.1:n.1139-766_1139-765insTT
XR_002956828.1:n.1234-766_1234-765insTT
XR_002956829.1:n.1154-766_1154-765insTT
XR_002956830.1:n.2286-16_2286-15insTT
XR_002956831.1:n.1961-16_1961-15insTT
XR_002956832.1:n.1285-16_1285-15insTT
NM_012203.2:c.866-16_866-15insTT MANE Select	NP_036335.1:n.866-16_866-15insTT